DAVID Bioinformatics 6.7
The Database for Annotation, Visualization and Integrated Discovery
DAVID Bioinformatics Resources 6.8
Laboratory of Human Retrovirology and Immunoinformatics (LHRI)

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DAVID Functional Annotation Table
Functional Annotation Table
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Current Gene List: List_1
Current Background: Homo sapiens
282 DAVID IDs

281 record(s) Right-click and select 'Save Target As' to download results Download File
11093 ADAM metallopeptidase with thrombospondin type 1 motif 13(ADAMTS13) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000160323,
GAD_DISEASE Alcoholism, Alkaline Phosphatase, arterial thrombosis, Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Stroke|Thrombosis, Congenital thrombotic thrombocytopenic purpura, E-Selectin, null, Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder, plasma levels of liver enzymes, Pregnancy Complications, Hematologic|Purpura, Thrombotic Thrombocytopenic, stroke, ischemic,
GOTERM_BP_DIRECT proteolysis, cell-matrix adhesion, integrin-mediated signaling pathway, glycoprotein metabolic process, response to toxic substance, response to amine, protein processing, platelet activation, response to potassium ion, protein O-linked fucosylation, peptide catabolic process, cellular response to lipopolysaccharide, cellular response to interferon-gamma, cellular response to interleukin-4, cellular response to tumor necrosis factor,
GOTERM_CC_DIRECT proteinaceous extracellular matrix, extracellular space, endoplasmic reticulum lumen, cell surface,
GOTERM_MF_DIRECT metalloendopeptidase activity, integrin binding, calcium ion binding, protein binding, peptidase activity, metallopeptidase activity, zinc ion binding, hydrolase activity,
INTERPRO CUB domain, Thrombospondin, type 1 repeat, Peptidase M12B, ADAM/reprolysin, ADAM, cysteine-rich, Peptidase M12B, ADAM-TS, Metallopeptidase, catalytic domain,
OFFICIAL_GENE_SYMBOL ADAMTS13,
OMIM_DISEASE Thrombotic thrombocytopenic purpura, familial,
PFAM Thrombospondin type 1 domain, Reprolysin (M12B) family zinc metalloprotease ,
PUBMED_ID 11167130, 11230166, 11535494, 11535495, 11557746, 11574066, 11586344, 11586351, 11843286, 11867212, 11920264, 12038781, 12084165, 12091044, 12091372, 12130486, 12172456, 12181489, 12195022, 12223999, 12393397, 12393399, 12393505, 12395148, 12477932, 12576319, 12614216, 12615692, 12640381, 12753286, 12775718, 12791682, 12855569, 12869506, 12871390, 12871391, 12923577, 12975309, 12975358, 14512308, 14512317, 14525793, 14563640, 14644076, 14727254, 14727255, 14727256, 14727257, 14727259, 14727263, 14962303, 14976043, 15009458, 15009467, 15126318, 15164053, 15175818, 15182579, 15249683, 15327386, 15388580, 15521921, 15583740, 15692254, 15710227, 15711742, 15774619, 15774620, 15809291, 15824096, 15842379, 15855280, 15865866, 15886321, 15890682, 15975930, 16102037, 16113782, 16141351, 16160007, 16189276, 16203734, 16221672, 16286459, 16322474, 16335952, 16344560, 16391894, 16449289, 16453338, 16468327, 16597588, 16634765, 16755777, 16794526, 16796708, 16807643, 16894459, 16899464, 16953270, 16990571, 17003922, 17030346, 17053057, 17087728, 17121983, 17229645, 17294528, 17296575, 17395589, 17725738, 17764538, 17768109, 17849048, 17901248, 17922807, 17928530, 17988227, 18031293, 18166799, 18175284, 18194418, 18223285, 18240172, 18263586, 18327408, 18332284, 18433458, 18443791, 18449422, 18492805, 18492952, 18502798, 18521503, 18581589, 18609162, 18665921, 18725999, 18756543, 18801485, 18833927, 18835837, 18940312, 18981290, 18983500, 18988930, 18996572, 19027144, 19041237, 19047683, 19054323, 19055667, 19069166, 19109562, 19116307, 19162307, 19190804, 19190805, 19190814, 19234142, 19253359, 19260037, 19270304, 19389207, 19422343, 19422532, 19427680, 19439298, 19492149, 19506365, 19541819, 19574655, 19584892, 19587373, 19644711, 19654870, 19682236, 19718479, 19729451, 19765208, 19765212, 19809308, 19812385, 19822897, 19847791, 19880749, 19897584, 19944670, 19996632, 20032502, 20054668, 20058209, 20062916, 20075158, 20141578, 20201926, 20307901, 20390223, 20553378, 20605782, 20624874, 20647566, 20664912, 20682599, 20695979, 20704649, 20705333, 20734064, 20923926, 20946172, 20958794, 21077328, 21103662, 21136020, 21196718, 21238935, 21275971, 21350095, 21385852, 21479334, 21488199, 21512165, 21535387, 21573942, 21605335, 21606162, 21676167, 21705658, 21712537, 21715306, 21720563, 21732076, 21779388, 21781265, 21799176, 21843064, 21896483, 21901237, 22070827, 22075512, 22110247, 22163125, 22168261, 22192749, 22205175, 22289888, 22289891, 22298244, 22314603, 22324373, 22370688, 22398507, 22431572, 22466813, 22529288, 22529289, 22627385, 22627470, 22672482, 22685231, 22703881, 22707719, 22768050, 22781599, 22783805, 22854959, 22915644, 22922961, 23020229, 23041092, 23058857, 23073062, 23141846, 23144461, 23225307, 23233642, 23266519, 23267103, 23346910, 23411128, 23415418, 23433535, 23443151, 23446343, 23481506, 23494361, 23523588, 23524258, 23554033, 23621748, 23636243, 23648131, 23677910, 23682841, 23683325, 23715102, 23729372, 23733198, 23847193, 23878316, 24073552, 24106205, 24120584, 24186313, 24333090, 24338607, 24351199, 24354764, 24357063, 24386898, 24401653, 24406064, 24433405, 24449821, 24550384, 24558203, 24679129, 24681085, 24740645, 24942015, 24950743, 24977290, 25010251, 25057114, 25086665, 25113276, 25201004, 25242241, 25422322, 25430937, 25431165, 25442981, 25498844, 25512499, 25512528, 25523333, 25564400, 25643015, 25782102, 25824235, 25846964, 25849793, 25903530, 25904363, 25934476, 26073931, 26085195, 26121272, 26139087, 26168189, 26170332, 26267233, 26272487, 26338302, 26345337, 26391536, 26425683, 26454844, 26456149, 26616301, 26747250, 26773038, 26897861, 8639781, 8639782, 9129011,
SMART TSP1, ACR,
UP_KEYWORDS 3D-structure, Alternative splicing, Blood coagulation, Calcium, Cleavage on pair of basic residues, Complete proteome, Direct protein sequencing, Disease mutation, Disulfide bond, Glycoprotein, Hemostasis, Hydrolase, Metal-binding, Metalloprotease, Polymorphism, Protease, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Zinc, Zymogen,
UP_SEQ_FEATURE chain:A disintegrin and metalloproteinase with thrombospondin motifs 13, disulfide bond, domain:CUB 1, domain:CUB 2, domain:Disintegrin, domain:Peptidase M12B, domain:TSP type-1 1, domain:TSP type-1 2, domain:TSP type-1 3, domain:TSP type-1 4, domain:TSP type-1 5, domain:TSP type-1 6, domain:TSP type-1 7, domain:TSP type-1 8, glycosylation site:N-linked (GlcNAc...), metal ion-binding site:Calcium, metal ion-binding site:Zinc; catalytic, mutagenesis site, region of interest:Cysteine-rich, region of interest:Spacer, sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide, splice variant,
UP_TISSUE Blood, Brain, Liver, Plasma, Testis, Thalamus,
55210 ATPase family, AAA domain containing 3A(ATAD3A) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000197785,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT cell growth, negative regulation of apoptotic process,
GOTERM_CC_DIRECT mitochondrion, mitochondrial inner membrane, integral component of membrane, mitochondrial nucleoid,
GOTERM_MF_DIRECT ATP binding,
INTERPRO AAA+ ATPase domain, ATPase, AAA-type, core, ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL ATAD3A,
PFAM ATPase family associated with various cellular activities (AAA), Domain of unknown function (DUF3523),
PUBMED_ID 12477932, 14702039, 15489334, 16055720, 16344560, 16710414, 17110338, 17148452, 17210950, 17353931, 18063578, 18639545, 19041431, 19156129, 19531213, 19738201, 20154147, 20332122, 20349121, 20351179, 20360068, 20473970, 20877624, 21145461, 21182205, 21584487, 21743956, 21907836, 22190034, 22192748, 22268729, 22318359, 22542587, 22586326, 22623428, 22664726, 23182705, 23443559, 23455922, 24057885, 24189400, 24239551, 24244333, 24366813, 24457600, 24550385, 24639526, 24711643, 25375035, 25823022, 25852190, 25921289, 25963833, 26344197, 26460568, 26471122, 26496610, 26549023, 26638075, 27499296,
SMART AAA,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Coiled coil, Complete proteome, Direct protein sequencing, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:ATPase family AAA domain-containing protein 3A, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Colon carcinoma, Skin,
83858 ATPase family, AAA domain containing 3B(ATAD3B) Related Genes Homo sapiens
COG_ONTOLOGY Secondary metabolites biosynthesis, transport, and catabolism / Transcription,
ENSEMBL_GENE_ID ENSG00000160072,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cell division,
GOTERM_CC_DIRECT mitochondrial inner membrane,
GOTERM_MF_DIRECT ATP binding,
INTERPRO AAA+ ATPase domain, ATPase, AAA-type, core, ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL atad3b,
PFAM ATPase family associated with various cellular activities (AAA), Domain of unknown function (DUF3523),
PUBMED_ID 10574462, 12477932, 14702039, 15489334, 16710414, 16909202, 17148452, 17210950, 17353931, 17550899, 18639545, 18729074, 19156129, 19167051, 19380743, 19615732, 19913121, 20186120, 20360068, 20473970, 20877624, 21145461, 22190034, 22192748, 22268729, 22664726, 23443559, 23602568, 23818839, 24239551, 24244333, 24344204, 24639526, 24797263, 25921289, 26344197, 26496610, 26549023,
SMART AAA,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Cell cycle, Cell division, Coiled coil, Complete proteome, Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleotide-binding, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:ATPase family AAA domain-containing protein 3B, compositionally biased region:Poly-Pro, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Amygdala, Brain, Placenta, Thymus,
80115 BAI1 associated protein 2 like 2(BAIAP2L2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000128298,
GOTERM_BP_DIRECT plasma membrane organization, insulin receptor signaling pathway, positive regulation of actin filament polymerization, actin filament bundle assembly, actin crosslink formation, membrane organization, positive regulation of actin cytoskeleton reorganization,
GOTERM_CC_DIRECT cytosol, plasma membrane, vesicle membrane, actin cytoskeleton, cytoplasmic vesicle membrane, cell-cell contact zone, clathrin complex,
GOTERM_MF_DIRECT phospholipid binding, cytoskeletal adaptor activity,
INTERPRO Src homology-3 domain, IRSp53/MIM homology domain (IMD),
OFFICIAL_GENE_SYMBOL BAIAP2L2,
PFAM IRSp53/MIM homology domain, Variant SH3 domain,
PUBMED_ID 10591208, 12477932, 12975309, 15489334, 18029348, 21401524, 21743456,
SMART SH3,
UP_KEYWORDS Alternative splicing, Cell junction, Cell membrane, Complete proteome, Cytoplasmic vesicle, Lipid-binding, Membrane, Phosphoprotein, Proteomics identification, Reference proteome, SH3 domain,
UP_SEQ_FEATURE chain:Brain-specific angiogenesis inhibitor 1- associated protein 2-like protein 2, domain:IMD, domain:SH3, sequence conflict, splice variant,
UP_TISSUE Eye, Human small intestine,
8938 BAI1 associated protein 3(BAIAP3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000007516,
GAD_DISEASE Stroke,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, neurotransmitter secretion,
GOTERM_CC_DIRECT presynapse,
GOTERM_MF_DIRECT protein C-terminus binding,
INTERPRO C2 calcium-dependent membrane targeting, Munc13 homology 1, Mammalian uncoordinated homology 13, domain 2, Mammalian uncoordinated homology 13, subgroup, domain 2,
KEGG_PATHWAY Transcriptional misregulation in cancer,
OFFICIAL_GENE_SYMBOL BAIAP3,
PFAM C2 domain, Munc13 (mammalian uncoordinated) homology domain,
PUBMED_ID 11076863, 11157797, 11230166, 12168954, 12477932, 12498718, 15489334, 15489336, 15616553, 16381901, 23698091, 8619474, 9110174, 9790924, 9872452,
SMART C2,
UP_KEYWORDS Alternative splicing, Complete proteome, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:BAI1-associated protein 3, domain:C2 1, domain:C2 2, domain:MHD1, domain:MHD2, sequence variant, splice variant,
UP_TISSUE Amygdala, Brain, Hippocampus,
221927 BRCA1 associated ATM activator 1(BRAT1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000106009,
GOTERM_BP_DIRECT positive regulation of protein phosphorylation, glucose metabolic process, apoptotic process, cellular response to DNA damage stimulus, cell proliferation, response to ionizing radiation, cell growth, cell migration, mitochondrion localization,
GOTERM_CC_DIRECT nucleus, cytoplasm, membrane,
GOTERM_MF_DIRECT protein binding,
INTERPRO HEAT, Armadillo-like helical, Armadillo-type fold,
OFFICIAL_GENE_SYMBOL BRAT1,
OMIM_DISEASE Rigidity and multifocal seizure syndrome, lethal neonatal,
PFAM HEAT repeat,
PUBMED_ID 12477932, 14702039, 15342556, 15489334, 16452482, 16964243, 19946888, 22279524, 22863883, 22977523, 23251661, 23383273, 24073851, 25070371, 25319849, 25631046, 25657994, 25921289, 26186194, 26496610, 26535877,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Cytoplasm, DNA damage, Epilepsy, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Ubl conjugation,
UP_SEQ_FEATURE chain:HEAT repeat-containing protein C7orf27, modified residue, repeat:HEAT 1, repeat:HEAT 2, sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Duodenum, Epithelium, Placenta, Skin, Spleen, Testis,
6249 CAP-Gly domain containing linker protein 1(CLIP1) Related Genes Homo sapiens
BIOCARTA Lissencephaly gene (LIS1) in neuronal migration and development,
ENSEMBL_GENE_ID ENSG00000130779,
GAD_DISEASE Tunica Media,
GOTERM_BP_DIRECT microtubule bundle formation, sister chromatid cohesion, mitotic nuclear division, positive regulation of microtubule polymerization, protein transport into plasma membrane raft, positive regulation of dendrite development,
GOTERM_CC_DIRECT kinetochore, ruffle, nuclear envelope, cytoplasm, endosome, centrosome, cytosol, microtubule, cytoplasmic microtubule, intermediate filament, microtubule cytoskeleton, cytoplasmic vesicle membrane, microtubule plus-end, macropinosome, microtubule end,
GOTERM_MF_DIRECT nucleic acid binding, protein binding, microtubule binding, zinc ion binding, tubulin binding, protein homodimerization activity, metal ion binding, microtubule plus-end binding,
INTERPRO CAP Gly-rich domain,
OFFICIAL_GENE_SYMBOL CLIP1,
PFAM CAP-Gly domain,
PUBMED_ID 10052454, 11290329, 11940666, 11966772, 12110184, 12231510, 12433698, 12477932, 12789661, 12833147, 12885786, 1356075, 14702039, 15262990, 15302935, 15345747, 15572129, 15840729, 15862147, 15928712, 1600942, 16083285, 16120651, 16362039, 16455083, 16565220, 16574066, 16772339, 16964243, 17081983, 17563362, 17828275, 17828277, 17889670, 18029348, 18237546, 18622020, 19004523, 19020519, 19126680, 19687009, 20360068, 20664522, 20679239, 21399614, 21646404, 21989536, 22119847, 22424550, 22543185, 22863883, 23549612, 24255178, 24451569, 24474193, 24530770, 24569606, 24777477, 25413345, 25972084, 26186194, 26231764, 26344197, 26496610, 26504169, 26506308, 26638075, 26687479, 27199431, 7983157, 8222754, 8889548, 9784600,
SMART SM01052,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell projection, Coiled coil, Complete proteome, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane, Metal-binding, Microtubule, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transport, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:CAP-Gly domain-containing linker protein 1, compositionally biased region:Ser-rich, domain:CAP-Gly 1, domain:CAP-Gly 2, helix, modified residue, sequence conflict, sequence variant, short sequence motif:CCHC-box, splice variant, strand, turn,
UP_TISSUE Brain, Epithelium, Lymph, Peripheral blood monocyte,
10421 CD2 cytoplasmic tail binding protein 2(CD2BP2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000169217,
GOTERM_BP_DIRECT spliceosomal tri-snRNP complex assembly, mRNA splicing, via spliceosome, negative regulation of phosphatase activity,
GOTERM_CC_DIRECT nucleus, nucleoplasm, U5 snRNP, cytoplasm, nuclear speck, U4/U6 x U5 tri-snRNP complex,
GOTERM_MF_DIRECT protein binding, ribonucleoprotein complex binding,
INTERPRO GYF,
OFFICIAL_GENE_SYMBOL CD2BP2,
PFAM GYF domain,
PUBMED_ID 10404223, 10574461, 12226669, 12426371, 12477932, 15105431, 15489334, 15840814, 15850374, 16000308, 16120600, 16403013, 16712791, 16941565, 16949628, 17081983, 17332742, 17353931, 17467737, 17906334, 1831175, 19389623, 19615732, 19759913, 20360068, 21145461, 22113938, 22365833, 22658674, 22939629, 22990118, 25036637, 2527369, 25416956, 25921289, 26186194, 26344197, 26496610, 26871637, 27173435, 8889548, 9741631, 9843987,
SMART GYF,
UP_KEYWORDS 3D-structure, Acetylation, Complete proteome, Cytoplasm, mRNA processing, mRNA splicing, Nucleus, Phosphoprotein, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:CD2 antigen cytoplasmic tail-binding protein 2, domain:GYF, helix, modified residue, sequence variant, strand,
UP_TISSUE Aorta, Brain, Epithelium, Liver, Lung,
63950 DMRT like family A2(DMRTA2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000142700,
GOTERM_BP_DIRECT positive regulation of neuroblast proliferation, regulation of transcription, DNA-templated, brain development, sex differentiation, cerebral cortex regionalization, skeletal muscle cell differentiation, neuron fate specification, dopaminergic neuron differentiation,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT core promoter proximal region sequence-specific DNA binding, transcription factor activity, sequence-specific DNA binding, protein homodimerization activity, sequence-specific DNA binding, metal ion binding, protein heterodimerization activity,
INTERPRO DM DNA-binding, DMRTA motif, UBA-like, DMRT/protein doublesex/protein male abnormal 3,
OFFICIAL_GENE_SYMBOL DMRTA2,
PFAM DM DNA binding domain, DMRTA motif,
PUBMED_ID 11863363, 12477932, 25082981, 8889548,
SMART DM,
UP_KEYWORDS Complete proteome, DNA-binding, Metal-binding, Nucleus, Reference proteome, Zinc,
UP_SEQ_FEATURE chain:Doublesex- and mab-3-related transcription factor A2, compositionally biased region:Ala-rich, compositionally biased region:Gly-rich,
UP_TISSUE Testis,
728489 DNL-type zinc finger(DNLZ) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000213221,
GOTERM_BP_DIRECT protein folding, protein import into mitochondrial matrix, protein stabilization,
GOTERM_CC_DIRECT mitochondrion,
GOTERM_MF_DIRECT zinc ion binding, chaperone binding,
INTERPRO Zinc finger, DNL-type, Mitochondrial import protein TIM15,
OFFICIAL_GENE_SYMBOL DNLZ,
PFAM DNL zinc finger,
PUBMED_ID 12477932, 18632665, 21530495, 22162012, 23462535, 26186194,
UP_KEYWORDS Chaperone, Complete proteome, Metal-binding, Mitochondrion, Polymorphism, Proteomics identification, Reference proteome, Transit peptide, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:DNL-type zinc finger protein, sequence variant, zinc finger region:DNL-type,
UP_TISSUE Brain,
1999 E74 like ETS transcription factor 3(ELF3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163435,
GAD_DISEASE Asthma, Waist Circumference,
GOTERM_BP_DIRECT blastocyst development, regulation of transcription from RNA polymerase II promoter, transcription from RNA polymerase II promoter, inflammatory response, multicellular organism development, epidermis development, extracellular matrix organization, epithelial cell differentiation, negative regulation of transcription, DNA-templated, positive regulation of transcription, DNA-templated, positive regulation of transcription from RNA polymerase II promoter, mammary gland involution,
GOTERM_CC_DIRECT nucleus, cytoplasm,
GOTERM_MF_DIRECT RNA polymerase II core promoter proximal region sequence-specific DNA binding, RNA polymerase II transcription factor activity, sequence-specific DNA binding, transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding, transcription factor activity, sequence-specific DNA binding, transcription coactivator activity, protein binding, sequence-specific DNA binding,
INTERPRO Ets domain, Pointed domain, Winged helix-turn-helix DNA-binding domain, Sterile alpha motif/pointed domain,
OFFICIAL_GENE_SYMBOL ELF3,
PFAM Ets-domain, Sterile alpha motif (SAM)/Pointed domain,
PUBMED_ID 10064583, 10391676, 10773884, 10821850, 11036073, 12032832, 12119107, 12242338, 12414801, 12477932, 12624109, 12708845, 14582709, 14715662, 14767472, 14997048, 15025473, 15075319, 15169914, 16344560, 1651322, 1651323, 17060315, 17148437, 17353931, 17491012, 18029348, 18044710, 18302674, 18475289, 19074849, 19801644, 21871131, 22082156, 22158614, 22993316, 23329352, 23435425, 23464919, 23687337, 23867815, 24374157, 24694612, 24874735, 24971534, 25926267, 26185364, 26920025, 26977885, 8125298, 8889548, 9129154, 9234700, 9336459, 9395241, 9417054,
SMART SAM_PNT, ETS,
UP_KEYWORDS 3D-structure, Activator, Alternative splicing, Complete proteome, Cytoplasm, Developmental protein, Differentiation, DNA-binding, Inflammatory response, Nucleus, Polymorphism, Proteomics identification, Reference proteome, Repressor, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:ETS-related transcription factor Elf-3, DNA-binding region:ETS, domain:PNT, helix, mutagenesis site, sequence conflict, sequence variant, splice variant, strand, turn,
UP_TISSUE Fetal lung, Lung, Mammary cancer, Placenta, Retina,
79825 EF-hand and coiled-coil domain containing 1(EFCC1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000114654,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO EF-hand domain,
OFFICIAL_GENE_SYMBOL efcc1,
PUBMED_ID 12477932, 14702039, 15489334, 16641997, 21145461, 22632162,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 48, compositionally biased region:Poly-Ala, sequence variant,
UP_TISSUE Brain, Embryo,
133584 EGF like, fibronectin type III and laminin G domains(EGFLAM) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000164318,
GAD_DISEASE Blood Pressure, Calcium, Cholesterol, Cholesterol, LDL, Echocardiography, Exercise Test, Heart Failure, Interleukin-6, Lymphocytes, Neutrophils, Socioeconomic Factors, von Willebrand Factor,
GOTERM_BP_DIRECT positive regulation of cell-substrate adhesion, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, extracellular matrix organization,
GOTERM_CC_DIRECT basement membrane, interstitial matrix, cell surface, cell junction, synapse,
GOTERM_MF_DIRECT calcium ion binding, glycosaminoglycan binding,
INTERPRO Epidermal growth factor-like domain, Laminin G domain, EGF-like calcium-binding, Fibronectin, type III, EGF-like, conserved site, Concanavalin A-like lectin/glucanase, subgroup, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL EGFLAM,
PFAM EGF-like domain, Fibronectin type III domain, Laminin G domain, Laminin G domain,
PUBMED_ID 12477932, 14702039, 18641643, 19727342, 20078962, 21129441, 21145461, 22658674, 22760553, 24163370, 25900982, 26186194,
SMART FN3, EGF_CA, EGF, LamG,
UP_KEYWORDS Alternative splicing, Cell junction, Complete proteome, Direct protein sequencing, Disulfide bond, EGF-like domain, Extracellular matrix, Glycoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Synapse,
UP_SEQ_FEATURE chain:Pikachurin, disulfide bond, domain:EGF-like 1, domain:EGF-like 2, domain:EGF-like 3, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:Laminin G-like 1, domain:Laminin G-like 2, domain:Laminin G-like 3, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Brain, Fetal brain cortex, Kidney, Lung, Placenta, PNS, Retina, Spleen, Testis,
54869 EPS8 like 1(EPS8L1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000131037,
GOTERM_BP_DIRECT Rho protein signal transduction, regulation of Rho protein signal transduction, positive regulation of GTPase activity, cell-cell adhesion, positive regulation of ruffle assembly,
GOTERM_CC_DIRECT cytoplasm, cell-cell adherens junction, ruffle membrane, protein complex, extracellular exosome,
GOTERM_MF_DIRECT actin binding, Rho guanyl-nucleotide exchange factor activity, protein binding, kinase activity, Rac guanyl-nucleotide exchange factor activity, T cell receptor binding, cadherin binding involved in cell-cell adhesion,
INTERPRO Src homology-3 domain, Phosphotyrosine interaction domain, Pleckstrin homology-like domain, Tensin phosphotyrosine-binding domain,
OFFICIAL_GENE_SYMBOL EPS8L1,
PFAM SH3 domain, Phosphotyrosine-binding domain,
PUBMED_ID 10514543, 12477932, 12620401, 14565974, 14702039, 15489334, 15498874, 16344560, 17617578, 18644376, 19056867, 21044950, 23376485, 23533145, 25468996, 26167880,
SMART SH3, PTB,
UP_KEYWORDS 3D-structure, Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Kinase, Phosphoprotein, Polymorphism, Proteomics identification, Receptor, Reference proteome, SH3 domain, Signal, Transferase,
UP_SEQ_FEATURE chain:Epidermal growth factor receptor kinase substrate 8-like protein 1, compositionally biased region:Poly-Arg, compositionally biased region:Poly-Leu, compositionally biased region:Pro-rich, domain:SH3, helix, modified residue, sequence conflict, sequence variant, splice variant, strand,
UP_TISSUE Muscle, Placenta, Skin,
80267 ER degradation enhancing alpha-mannosidase like protein 3(EDEM3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000116406,
GOTERM_BP_DIRECT N-glycan processing, ER-associated ubiquitin-dependent protein catabolic process, endoplasmic reticulum unfolded protein response, proteasome-mediated ubiquitin-dependent protein catabolic process, endoplasmic reticulum mannose trimming, mannose trimming involved in glycoprotein ERAD pathway,
GOTERM_CC_DIRECT endoplasmic reticulum, endoplasmic reticulum lumen, membrane, endoplasmic reticulum quality control compartment,
GOTERM_MF_DIRECT alpha-mannosidase activity, glycoprotein endo-alpha-1,2-mannosidase activity, mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, calcium ion binding,
INTERPRO Glycoside hydrolase, family 47, Protease-associated domain, PA,
KEGG_PATHWAY Protein processing in endoplasmic reticulum,
OFFICIAL_GENE_SYMBOL EDEM3,
PFAM Glycosyl hydrolase family 47, PA domain,
PUBMED_ID 11318611, 12477932, 14702039, 15537790, 15579471, 16344560, 16431915, 16710414, 17499246, 18303019, 20360068, 22190034, 22268729, 23251661, 24871463, 24910992, 25092655, 25921289, 26496610, 8125298,
UP_KEYWORDS Alternative splicing, Complete proteome, Endoplasmic reticulum, Glycoprotein, Glycosidase, Hydrolase, Metal-binding, Polymorphism, Proteomics identification, Reference proteome, Signal, Unfolded protein response,
UP_SEQ_FEATURE chain:ER degradation-enhancing alpha- mannosidase-like 3, domain:PA, glycosylation site:N-linked (GlcNAc...), modified residue, sequence conflict, sequence variant, short sequence motif:Prevents secretion from ER, signal peptide,
UP_TISSUE Brain, Liver, Lung, Placenta, Testis, Whole embryo,
375748 ERCC excision repair 6 like 2(ERCC6L2) Related Genes Homo sapiens
COG_ONTOLOGY Transcription / DNA replication, recombination, and repair,
ENSEMBL_GENE_ID ENSG00000182150,
GAD_DISEASE Inflammation,
GOTERM_BP_DIRECT DNA repair,
GOTERM_CC_DIRECT nucleus, mitochondrion, microtubule organizing center,
GOTERM_MF_DIRECT DNA binding, ATP binding, ATP-dependent helicase activity,
INTERPRO SNF2-related, Helicase, C-terminal, DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site, Helicase, superfamily 1/2, ATP-binding domain, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL ERCC6L2,
OMIM_DISEASE Bone marrow failure syndrome 2,
PFAM SNF2 family N-terminal domain, Helicase conserved C-terminal domain, Helicase-associated putative binding domain, C-terminal,
PUBMED_ID 11181995, 12477932, 14702039, 16344560, 17207965, 20873783, 24507776, 25416956,
SMART DEXDc, HELICc,
UP_KEYWORDS Alternative splicing, ATP-binding, Complete proteome, Cytoplasm, Cytoskeleton, DNA damage, DNA repair, DNA-binding, Helicase, Hydrolase, Mitochondrion, Nucleotide-binding, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Putative DNA repair and recombination protein RAD26-like, domain:Helicase ATP-binding, domain:Helicase C-terminal, nucleotide phosphate-binding region:ATP, sequence variant, short sequence motif:DEAH box, splice variant,
UP_TISSUE Testis,
84261 F-box and WD repeat domain containing 9(FBXW9) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000132004,
GOTERM_MF_DIRECT protein binding,
INTERPRO WD40 repeat, F-box domain, cyclin-like, WD40/YVTN repeat-like-containing domain, WD40-repeat-containing domain, WD40 repeat, conserved site, G-protein beta WD-40 repeat,
OFFICIAL_GENE_SYMBOL FBXW9,
PFAM WD domain, G-beta repeat, F-box-like,
PUBMED_ID 12477932, 15489334, 15520277, 16344560, 19159283, 19615732, 21145461, 21832049, 26496610,
SMART FBOX, WD40,
UP_KEYWORDS Acetylation, Alternative splicing, Complete proteome, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Ubl conjugation pathway, WD repeat,
UP_SEQ_FEATURE chain:F-box/WD repeat-containing protein 9, domain:F-box, modified residue, repeat:WD 1, repeat:WD 2, repeat:WD 3, repeat:WD 4, repeat:WD 5, repeat:WD 6, repeat:WD 7, sequence variant, splice variant,
UP_TISSUE Lymph,
81545 F-box protein 38(FBXO38) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000145868,
GAD_DISEASE Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis,
GOTERM_BP_DIRECT positive regulation of neuron projection development,
GOTERM_CC_DIRECT nucleus, cytoplasm,
INTERPRO F-box domain, cyclin-like,
OFFICIAL_GENE_SYMBOL FBXO38,
OMIM_DISEASE Neuronopathy, distal hereditary motor, type IID,
PFAM F-box domain,
PUBMED_ID 12477932, 14702039, 14729953, 15302935, 15489334, 15498874, 15520277, 16344560, 19615732, 20360068, 20549515, 21832049, 21988832, 22658674, 22699663, 22939624, 24207122, 26186194, 26496610,
UP_KEYWORDS Alternative splicing, Complete proteome, Cytoplasm, Disease mutation, Neurodegeneration, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Ubl conjugation pathway,
UP_SEQ_FEATURE chain:F-box only protein 38, domain:F-box, modified residue, region of interest:Interaction with KLF7, sequence conflict, sequence variant, splice variant,
UP_TISSUE Epithelium, Eye, Muscle, PNS, Testis, Uterus,
22909 FANCD2/FANCI-associated nuclease 1(FAN1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000198690,
GOTERM_BP_DIRECT double-strand break repair via homologous recombination, DNA repair, nucleotide-excision repair, nucleotide-excision repair, DNA incision, interstrand cross-link repair,
GOTERM_CC_DIRECT nucleus, nucleoplasm, cytoplasm, intercellular bridge,
GOTERM_MF_DIRECT magnesium ion binding, DNA binding, nuclease activity, phosphodiesterase I activity, protein binding, 5'-3' exonuclease activity, 5'-flap endonuclease activity, ubiquitin binding, flap-structured DNA binding,
INTERPRO Zinc finger, Rad18-type putative, VRR-NUC domain,
KEGG_PATHWAY Fanconi anemia pathway,
OFFICIAL_GENE_SYMBOL FAN1,
OMIM_DISEASE Interstitial nephritis, karyomegalic,
PFAM VRR-NUC domain,
PUBMED_ID 10231032, 12477932, 15186772, 15342556, 16344560, 17148452, 20603015, 20603016, 20603073, 20671156, 20935496, 21115814, 21858661, 22611161, 22772369, 22854063, 23505323, 24344280, 24722188, 24981866, 25135477, 25430771, 25500724, 25922199, 26052075, 26221031, 26496610,
SMART ZnF_Rad18, SM00990,
UP_KEYWORDS 3D-structure, Alternative splicing, Coiled coil, Complete proteome, Disease mutation, DNA damage, DNA repair, Endonuclease, Exonuclease, Hydrolase, Magnesium, Manganese, Metal-binding, Nuclease, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Ubl conjugation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein MTMR15, sequence conflict, sequence variant, splice variant, zinc finger region:Rad18-type,
UP_TISSUE Brain, Lung,
11328 FK506 binding protein 9(FKBP9) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000122642,
GOTERM_BP_DIRECT protein peptidyl-prolyl isomerization, protein folding, chaperone-mediated protein folding,
GOTERM_CC_DIRECT endoplasmic reticulum, endoplasmic reticulum membrane,
GOTERM_MF_DIRECT peptidyl-prolyl cis-trans isomerase activity, calcium ion binding, FK506 binding,
INTERPRO Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain, EF-hand domain, EF-hand-like domain, EF-Hand 1, calcium-binding site, Peptidyl-prolyl cis-trans isomerase, FKBP-type,
OFFICIAL_GENE_SYMBOL FKBP9,
PFAM FKBP-type peptidyl-prolyl cis-trans isomerase, EF hand,
PUBMED_ID 10524204, 12036304, 12477932, 12690205, 12754519, 15489334, 16303743, 16344560, 19322201, 22863883, 26186194, 26496610,
SMART EFh,
UP_KEYWORDS Alternative splicing, Calcium, Complete proteome, Endoplasmic reticulum, Glycoprotein, Isomerase, Metal-binding, Phosphoprotein, Proteomics identification, Reference proteome, Repeat, Rotamase, Signal,
UP_SEQ_FEATURE calcium-binding region:1, calcium-binding region:2, chain:FK506-binding protein 9, domain:EF-hand 1, domain:EF-hand 2, domain:PPIase FKBP-type 1, domain:PPIase FKBP-type 2, domain:PPIase FKBP-type 3, domain:PPIase FKBP-type 4, glycosylation site:N-linked (GlcNAc...), short sequence motif:Prevents secretion from ER, signal peptide,
UP_TISSUE Brain, Breast, Kidney, Liver, Lung, PNS, Trachea,
158326 FRAS1 related extracellular matrix 1(FREM1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000164946,
GAD_DISEASE Blood Pressure, Body Height, height, Hip, Myocardial Infarction, Tobacco Use Disorder,
GOTERM_BP_DIRECT cell communication, cell-matrix adhesion, craniofacial suture morphogenesis,
GOTERM_CC_DIRECT basement membrane, integral component of membrane,
GOTERM_MF_DIRECT carbohydrate binding, metal ion binding,
INTERPRO C-type lectin, Na-Ca exchanger/integrin-beta4, C-type lectin-like, C-type lectin fold,
OFFICIAL_GENE_SYMBOL FREM1,
OMIM_DISEASE Manitoba oculotrichoanal syndrome, Bifid nose with or without anorectal and renal anomalies, Trigonocephaly 2,
PFAM Lectin C-type domain, Calx-beta domain,
PUBMED_ID 12477932, 12838346, 14702039, 15146197, 15164053, 15345741, 15489334, 15878328, 19490893, 19732862, 19893584, 19940113, 20301721, 20379614, 20562859, 21507892, 21931569, 22262840, 22690109, 22876578, 22915813, 23221805, 23401257, 24700879, 8889548,
SMART CLECT,
UP_KEYWORDS Alternative splicing, Basement membrane, Calcium, Cell adhesion, Complete proteome, Craniosynostosis, Developmental protein, Disease mutation, Disulfide bond, Extracellular matrix, Glycoprotein, Lectin, Metal-binding, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:FRAS1-related extracellular matrix protein 1, disulfide bond, domain:C-type lectin, domain:Calx-beta, glycosylation site:N-linked (GlcNAc...), repeat:CSPG 1, repeat:CSPG 10, repeat:CSPG 11, repeat:CSPG 12, repeat:CSPG 2, repeat:CSPG 3, repeat:CSPG 4, repeat:CSPG 5, repeat:CSPG 6, repeat:CSPG 7, repeat:CSPG 8, repeat:CSPG 9, sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide, splice variant,
UP_TISSUE Fetal kidney, Testis,
2177 Fanconi anemia complementation group D2(FANCD2) Related Genes Homo sapiens
BIOCARTA Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility, BRCA1-dependent Ub-ligase activity,
ENSEMBL_GENE_ID ENSG00000144554,
GAD_DISEASE Adenocarcinoma|Pancreatic Neoplasms, Bladder Cancer, Breast Cancer, breast cancer , Colorectal Neoplasms, epithelial ovarian cancer , Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary, prostate cancer, Tobacco Use Disorder,
GOTERM_BP_DIRECT DNA repair, synapsis, gamete generation, response to gamma radiation, cellular response to oxidative stress, interstrand cross-link repair, regulation of regulatory T cell differentiation, brain morphogenesis, regulation of inflammatory response, regulation of sequence-specific DNA binding transcription factor activity, neuronal stem cell population maintenance, regulation of CD40 signaling pathway,
GOTERM_CC_DIRECT condensed chromosome, nucleus, nucleoplasm, nucleolus, cytoplasm,
GOTERM_MF_DIRECT protein binding, DNA polymerase binding,
KEGG_PATHWAY Fanconi anemia pathway,
OFFICIAL_GENE_SYMBOL FANCD2,
OMIM_DISEASE Fanconi anemia, complementation group D2,
PFAM Fanconi anaemia protein FancD2 nuclease,
PUBMED_ID 10762542, 11239453, 11239454, 11733219, 11751423, 12042798, 12086603, 12093742, 12239151, 12389351, 12447395, 12477932, 12607003, 12607005, 12649160, 12874027, 12887909, 12973351, 14499622, 14517836, 14667412, 14702039, 14743216, 14988723, 15115758, 15199141, 15257300, 15302935, 15314022, 15377654, 15454491, 15489334, 15502827, 15650050, 15661754, 15671039, 15694335, 15849361, 15886296, 16116422, 16127171, 16474167, 16513431, 16679306, 16943440, 17304220, 17308347, 17314511, 17333336, 17436244, 17460694, 17643815, 17898070, 18029388, 18082604, 18212739, 18263878, 18270339, 18469862, 18475298, 18482162, 18672388, 18931676, 18950845, 19011769, 19047177, 19064571, 19064572, 19129235, 19237606, 19322201, 19423727, 19465922, 19466639, 19504183, 19536092, 19536649, 19561358, 19609304, 19671671, 19690177, 19704162, 19714462, 19729998, 19748364, 19861535, 19995904, 20040763, 20301575, 20301753, 20339950, 20363922, 20379614, 20450923, 20467437, 20496165, 20507282, 20519958, 20538911, 20556575, 20603015, 20603016, 20603073, 20671156, 20676667, 20805509, 20819778, 20967207, 21203397, 21229326, 21314979, 21355096, 21520247, 21697891, 21775430, 21865299, 21912593, 21919919, 21995812, 22293751, 22484854, 22705371, 22828868, 22829014, 22854063, 22855611, 22863883, 22872141, 23063585, 23318456, 23357080, 23388460, 23602568, 23633493, 23852546, 23897704, 23965832, 23993743, 24036990, 24104479, 24278431, 24451376, 24512567, 24556218, 24623813, 24658369, 24708616, 24755620, 24778252, 24787670, 24794434, 25070891, 25071006, 25135477, 25168188, 25176410, 25489943, 25542235, 25652403, 25659033, 25736055, 25801034, 25891850, 25893307, 25921289, 26046368, 26083937, 26186194, 26187992, 26277624, 26323318, 26336824, 26344197, 26354767, 26385482, 26430909, 26496610, 26584049, 26687479, 26765540, 7581463,
UP_KEYWORDS Alternative splicing, Cell cycle, Complete proteome, Disease mutation, DNA damage, DNA repair, Fanconi anemia, Isopeptide bond, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:Fanconi anemia group D2 protein, cross-link:Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin), modified residue, mutagenesis site, region of interest:Interaction with BRCA2, region of interest:Interaction with FANCE, sequence conflict, sequence variant, splice variant,
UP_TISSUE Epithelium, Lung, Lymphoblast, Melanoma, Teratocarcinoma,
2215 Fc fragment of IgG receptor IIIb(FCGR3B) Related Genes Homo sapiens
BBID 73.Integrins_and_other_cell-surface_receptors,
ENSEMBL_GENE_ID ENSG00000162747,
GAD_DISEASE Addison's disease, Addison's disease Graves' disease lupus erythematosus polyangitis Wegener's granulomatosis, Aggressive Periodontitis|Alveolar Bone Loss|Chronic Periodontitis|Periodontal Attachment Loss|Periodontal Pocket|Periodontitis, Aggressive Periodontitis|Chronic Periodontitis|Periodontitis, Juvenile, Aggressive Periodontitis|Periodontitis, Juvenile, agranulocytosis, drug induced, anti-GBM disease, antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis, Arthritis, arthritis lymphopenia nephritis, lupus, Arthritis, Rheumatoid, Arthritis, Rheumatoid|, Arthritis, Rheumatoid|Periodontitis|Rheumatoid Arthritis, Arthritis, Rheumatoid|Rheumatoid Arthritis, atherosclerosis, coronary, Autoimmune Diseases, Behcet Syndrome, bone marrow transplantation, candidiasis, Chronic Periodontitis, Cryptococcosis, Glomerulonephritis, IGA|IGA Glomerulonephritides, Guillain-Barre syndrome, hepatitis C, chronic, idiopathic pulmonary fibrosis, Kawasaki disease, kidney failure, chronic kidney transplant, Lichen Planus, Oral, Lupus, lupus erythematosus, lupus erythematosus periodontitis, Lupus Erythematosus, Systemic|Lupus Nephritis, Lupus Erythematosus, Systemic|Seizures, Lupus Erythematosus, Systemic|Systemic lupus erythematosus, lupus erythematosus; agranulocytosis, drug induced, lupus erythematosus; nephropathy in other diseases, lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced, lupus erythematosus; periodontitis, Lupus Nephritis, Lupus Nephritis|Nephritis SLE, Lymphoma, Follicular, Malaria, meningococcal disease, Multiple Myeloma|Pneumonia|Sepsis, Multiple Sclerosis, multiple sclerosis; lupus erythematosus; Wegener's granulomatosis; Guillain-Barre syndrome; thrombocytopenic purpura, idiopathic, myasthenia gravis, null, periodontal disease, periodontitis, poliomyelitis, respiratory tract infections, rheumatic fever, rheumatoid arthritis, Still's Disease, Adult-Onset, Stroke, systemic lupus erythematosus, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone, urinary tract infection,
GOTERM_BP_DIRECT immune response,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane, anchored component of membrane, extracellular exosome,
GOTERM_MF_DIRECT IgG binding,
INTERPRO Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin-like fold,
KEGG_PATHWAY Phagosome, Osteoclast differentiation, Natural killer cell mediated cytotoxicity, Leishmaniasis, Staphylococcus aureus infection, Tuberculosis, Systemic lupus erythematosus,
OFFICIAL_GENE_SYMBOL FCGR3B,
OMIM_DISEASE Neutropenia, alloimmune neonatal,
PFAM Immunoglobulin domain,
PUBMED_ID 10917521, 11021536, 11034564, 11099670, 11359830, 11379895, 11528518, 11699473, 11740730, 11835346, 11897993, 12027254, 12064825, 12076295, 12115243, 12121275, 12176802, 12393699, 12421634, 12445195, 12447772, 12477932, 12486608, 12501257, 12710759, 12753656, 12830330, 12834496, 12839649, 12858454, 12864991, 12867584, 12898191, 14597109, 14634123, 14651519, 14740435, 14761117, 15152814, 15194589, 15245367, 15369725, 15457442, 15500735, 15526004, 15688433, 15713217, 15783303, 15833371, 15889368, 15910853, 15934433, 15946259, 15974849, 16110781, 16133986, 16155708, 16160618, 16171455, 16344560, 16356189, 16467081, 16482158, 16542359, 16550341, 16598772, 16805673, 16889631, 16899095, 17335370, 17523948, 17529978, 17584599, 17596285, 17710620, 17847104, 18052703, 18156711, 18372357, 18408222, 18452102, 18559452, 18843786, 19026120, 19100392, 19201911, 19218011, 19309690, 19317341, 19320901, 19342628, 19497711, 19502269, 19640933, 19720214, 19741716, 19892918, 19913121, 19946017, 19946035, 20041976, 20133350, 20149216, 20300756, 20356573, 20364047, 20367096, 20379614, 20439936, 20442749, 20472591, 20508037, 20536598, 20628086, 20664961, 20707220, 20720565, 20924590, 20957197, 20980704, 21109729, 21123174, 21227406, 21296850, 2139735, 21818580, 21832933, 21895673, 21937707, 22020285, 22167032, 22290871, 22309893, 22512913, 22551723, 22565545, 22770404, 22837109, 22942264, 22999728, 23049979, 23128233, 23261299, 23281059, 23376485, 23398146, 23533145, 23649770, 23778324, 23917248, 23935200, 24191245, 24205492, 24554771, 24673810, 24896836, 24945596, 25012234, 25024378, 25154742, 2521732, 25250834, 2525780, 2526846, 25345863, 25428402, 25626603, 25816339, 25966632, 26032265, 26186194, 26314337, 26407570, 26748351, 2967436, 7836402, 8940055, 9028335, 9743356,
SMART IG,
UP_KEYWORDS 3D-structure, Cell membrane, Complete proteome, Disulfide bond, Glycoprotein, GPI-anchor, IgG-binding protein, Immunoglobulin domain, Lipoprotein, Membrane, Polymorphism, Proteomics identification, Receptor, Reference proteome, Repeat, Secreted, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Low affinity immunoglobulin gamma Fc region receptor III-B, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, glycosylation site:N-linked (GlcNAc...), helix, lipid moiety-binding region:GPI-anchor amidated serine, propeptide:Removed in mature form, sequence variant, signal peptide, strand,
UP_TISSUE Leukocyte, Peripheral blood, Placenta,
9648 GRIP and coiled-coil domain containing 2(GCC2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000135968,
GOTERM_BP_DIRECT protein targeting to Golgi, protein targeting to lysosome, microtubule organizing center organization, protein localization to Golgi apparatus, microtubule anchoring, late endosome to Golgi transport, retrograde transport, endosome to Golgi, Golgi to plasma membrane protein transport, regulation of protein exit from endoplasmic reticulum, recycling endosome to Golgi transport, Golgi ribbon formation,
GOTERM_CC_DIRECT intracellular, Golgi apparatus, trans-Golgi network, cytosol, membrane,
GOTERM_MF_DIRECT protein binding, identical protein binding,
INTERPRO GRIP,
OFFICIAL_GENE_SYMBOL GCC2,
PFAM GRIP domain,
PUBMED_ID 10508479, 11149944, 12200376, 12446665, 12477932, 12972563, 14702039, 15489334, 15522892, 15654769, 15815621, 16344560, 16885419, 16964243, 17488291, 17543864, 18029348, 18195106, 18243103, 18946081, 19013454, 19615732, 19703403, 19946888, 21875948, 22159419, 22939629, 25476789, 26167880, 26186194, 26344197, 26496610, 26653856, 8889548, 9205841,
SMART Grip,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Golgi apparatus, Membrane, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Transport,
UP_SEQ_FEATURE chain:GRIP and coiled-coil domain-containing protein 2, compositionally biased region:Glu-rich, domain:GRIP, helix, modified residue, mutagenesis site, sequence conflict, sequence variant, splice variant,
UP_TISSUE Amygdala, Brain, Epithelium, Renal cell carcinoma, Testis,
54801 HAUS augmin like complex subunit 6(HAUS6) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000147874,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT G2/M transition of mitotic cell cycle, mitotic nuclear division, spindle assembly, centrosome organization, cell division,
GOTERM_CC_DIRECT nucleoplasm, cytoplasm, centrosome, microtubule organizing center, spindle, cytosol, microtubule, HAUS complex,
INTERPRO HAUS augmin-like complex subunit 6,
OFFICIAL_GENE_SYMBOL HAUS6,
PFAM HAUS augmin-like complex subunit 6 N-terminus,
PUBMED_ID 10997877, 11076863, 11230166, 12477932, 14702039, 15164053, 15489334, 15489336, 16344560, 16381901, 16565220, 16964243, 18029348, 18443220, 19029337, 19322201, 19369198, 19427217, 20360068, 20379614, 21244100, 21399614, 21832049, 21903422, 22239941, 23443559, 23455924, 25173975, 25281560, 25921289, 26186194, 26496610, 26638075, 26673895, 8125298,
UP_KEYWORDS Alternative splicing, Cell cycle, Cell division, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Microtubule, Mitosis, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:HAUS augmin-like complex subunit 6, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Lung, PCR rescued clones, Uterus,
54768 HYDIN, axonemal central pair apparatus protein(HYDIN) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000157423,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT epithelial cell development, cilium movement, ventricular system development, trachea development, axonemal central apparatus assembly,
GOTERM_CC_DIRECT axonemal central pair projection,
INTERPRO Major sperm protein, PapD-like, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL HYDIN,
OMIM_DISEASE Ciliary dyskinesia, primary, 5,
PFAM MSP (Major sperm protein) domain,
PUBMED_ID 11347906, 12477932, 12719380, 14702039, 14985390, 15342556, 16344560, 16938426, 19389623, 20301301, 20379614, 23022101, 23144326, 23314748, 23936387, 24777681,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell projection, Ciliopathy, Coiled coil, Complete proteome, Polymorphism, Primary ciliary dyskinesia, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Hydrocephalus-inducing protein homolog, compositionally biased region:Poly-Glu, helix, modified residue, sequence conflict, sequence variant, splice variant, strand,
UP_TISSUE Amygdala, Brain, Lung, Teratocarcinoma, Testis,
128239 IQ motif containing GTPase activating protein 3(IQGAP3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000183856,
GAD_DISEASE longevity,
GOTERM_BP_DIRECT G1/S transition of mitotic cell cycle, activation of MAPK activity, signal transduction, Ras protein signal transduction, regulation of cell size, positive regulation of gene expression, negative regulation of gene expression, positive regulation of mammary gland epithelial cell proliferation, regulation of GTPase activity, ERK1 and ERK2 cascade, cellular response to organic substance,
GOTERM_CC_DIRECT cytosol, cell-cell junction, lateral plasma membrane,
GOTERM_MF_DIRECT calmodulin binding, Rho GTPase binding, myosin VI light chain binding,
INTERPRO IQ motif, EF-hand binding site, RasGAP protein, C-terminal, Calponin homology domain, Ras GTPase-activating protein, Rho GTPase activation protein, Ras GTPase-activating protein, conserved site,
KEGG_PATHWAY Regulation of actin cytoskeleton,
OFFICIAL_GENE_SYMBOL IQGAP3,
PFAM Calponin homology (CH) domain, IQ calmodulin-binding motif, GTPase-activator protein for Ras-like GTPase, RasGAP C-terminus,
PUBMED_ID 12477932, 14702039, 17244649, 17314511, 19322201, 19961560, 20360068, 20800603, 21299499, 21565611, 23667531, 23956138, 24639526, 24778252, 24849319, 25229330, 25416956, 25722290, 25921289, 26186194, 26344197, 26496610,
SMART IQ, CH, RasGAP,
UP_KEYWORDS 3D-structure, Calmodulin-binding, Complete proteome, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Ras GTPase-activating-like protein IQGAP3, domain:CH, domain:IQ 1, domain:IQ 2, domain:IQ 3, domain:IQ 4, domain:Ras-GAP, modified residue, sequence conflict, sequence variant,
UP_TISSUE Embryonic kidney,
91355 LDL receptor related protein 5 like(LRP5L) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000100068,
GOTERM_BP_DIRECT Wnt signaling pathway involved in dorsal/ventral axis specification, canonical Wnt signaling pathway,
GOTERM_CC_DIRECT plasma membrane, receptor complex,
GOTERM_MF_DIRECT Wnt-protein binding, Wnt-activated receptor activity,
INTERPRO LDLR class B repeat, Six-bladed beta-propeller, TolB-like,
OFFICIAL_GENE_SYMBOL LRP5L,
PFAM Low-density lipoprotein receptor repeat class B,
PUBMED_ID 12477932, 14702039, 21900206, 7566098,
SMART LY,
UP_KEYWORDS Alternative splicing, Complete proteome, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Low-density lipoprotein receptor-related protein 5-like protein, repeat:LDL-receptor class B 1, repeat:LDL-receptor class B 2, repeat:LDL-receptor class B 3, repeat:LDL-receptor class B 4, repeat:LDL-receptor class B 5, sequence variant, splice variant,
UP_TISSUE Brain, Testis,
386746 MAS related GPR family member G(MRGPRG) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000182170,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway,
GOTERM_CC_DIRECT integral component of plasma membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, GPCR, rhodopsin-like, 7TM, Mas-related G protein-coupled receptor family, Mas-related G protein-coupled receptor G,
OFFICIAL_GENE_SYMBOL MRGPRG,
PUBMED_ID 12679517, 15164054,
UP_KEYWORDS Cell membrane, Complete proteome, G-protein coupled receptor, Membrane, Receptor, Reference proteome, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Mas-related G-protein coupled receptor member G, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
79778 MICAL like 2(MICALL2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000164877,
GOTERM_BP_DIRECT actin filament polymerization, neuron projection development, actin cytoskeleton reorganization, endocytic recycling, substrate adhesion-dependent cell spreading, bicellular tight junction assembly, positive regulation of protein targeting to mitochondrion,
GOTERM_CC_DIRECT stress fiber, cytosol, plasma membrane, cell-cell junction, bicellular tight junction, actin filament bundle, neuron projection, recycling endosome,
GOTERM_MF_DIRECT protein binding, zinc ion binding, Rab GTPase binding, filamin binding, actinin binding, actin filament binding,
INTERPRO Calponin homology domain, Zinc finger, LIM-type, Domain of unknown function DUF3585,
OFFICIAL_GENE_SYMBOL MICALL2,
PFAM Calponin homology (CH) domain, LIM domain, Protein of unknown function (DUF3585),
PUBMED_ID 12110185, 12477932, 12975309, 14702039, 15489334, 16344560, 16525024, 17891173, 20360068, 21150319, 23890175, 24270810, 25416956, 25864591, 26496610,
SMART CH, LIM,
UP_KEYWORDS Alternative splicing, Cell junction, Cell membrane, Cell projection, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Endosome, LIM domain, Membrane, Metal-binding, Phosphoprotein, Polymorphism, Reference proteome, Signal, Tight junction, Zinc,
UP_SEQ_FEATURE chain:MICAL-like protein 2, compositionally biased region:Poly-Ala, compositionally biased region:Poly-Arg, compositionally biased region:Poly-Ser, domain:CH, domain:LIM zinc-binding, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain cortex, Lymph node, Platelet, Small intestine, Spleen, Uterus,
27136 MORC family CW-type zinc finger 1(MORC1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000114487,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT multicellular organism development, spermatogenesis, cell differentiation,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT zinc ion binding,
INTERPRO Histidine kinase-like ATPase, ATP-binding domain, Zinc finger, CW-type,
OFFICIAL_GENE_SYMBOL MORC1,
PFAM CW-type Zinc Finger,
PUBMED_ID 10369865, 11060461, 12477932, 15489334, 20379614, 24204828, 24743840, 25158004, 26186194,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Developmental protein, Differentiation, Metal-binding, Nucleus, Polymorphism, Reference proteome, Spermatogenesis, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:MORC family CW-type zinc finger protein 1, sequence variant, zinc finger region:CW-type,
UP_TISSUE Testis,
92154 MTSS1L, I-BAR domain containing(MTSS1L) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000132613,
GOTERM_BP_DIRECT plasma membrane organization, lamellipodium organization,
GOTERM_CC_DIRECT ruffle, plasma membrane, lamellipodium, cortical actin cytoskeleton,
GOTERM_MF_DIRECT actin monomer binding, phosphatidylinositol-4,5-bisphosphate binding, Rac GTPase binding,
INTERPRO IRSp53/MIM homology domain (IMD),
OFFICIAL_GENE_SYMBOL MTSS1L,
PFAM IRSp53/MIM homology domain,
PUBMED_ID 12477932, 14752106, 18215522, 20875796, 25192599, 25332235, 25669885,
UP_KEYWORDS Actin-binding, Alternative splicing, Cell projection, Coiled coil, Complete proteome, Cytoplasm, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:MTSS1-like protein, compositionally biased region:Ser-rich, domain:IMD, domain:WH2, modified residue, splice variant,
UP_TISSUE Cervix, Skin,
4671 NLR family apoptosis inhibitory protein(NAIP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000249437,
GAD_DISEASE Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood,
GOTERM_BP_DIRECT apoptotic process, inflammatory response, nervous system development, regulation of signal transduction, protein ubiquitination, negative regulation of apoptotic process, negative regulation of cysteine-type endopeptidase activity involved in apoptotic process, response to amino acid, negative regulation of neuron apoptotic process, innate immune response, response to axon injury,
GOTERM_CC_DIRECT cytoplasm, basolateral plasma membrane, neuron projection, perikaryon, extracellular exosome,
GOTERM_MF_DIRECT ubiquitin-protein transferase activity, cysteine-type endopeptidase inhibitor activity, protein binding, ATP binding, metal ion binding,
INTERPRO Baculoviral inhibition of apoptosis protein repeat, AAA+ ATPase domain, NACHT nucleoside triphosphatase, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY NOD-like receptor signaling pathway, Legionellosis,
OFFICIAL_GENE_SYMBOL NAIP,
PFAM Inhibitor of Apoptosis domain,
PUBMED_ID 10369862, 10544044, 10899114, 11865055, 11896143, 11912351, 11955612, 12127562, 12445469, 12477932, 14685266, 15107016, 15252450, 15280366, 15340105, 15372022, 17222062, 17510375, 17613533, 17903057, 17923748, 17932457, 18071605, 18339188, 18414036, 18453601, 18533950, 18566024, 18759060, 18842367, 18974562, 19198020, 19287802, 19488400, 19923725, 20044205, 20171302, 21371431, 21821450, 22067212, 23012363, 23376485, 23940371, 23994529, 24163370, 24711022, 25137037, 25330799, 25888055, 26109648, 26347229, 7552146, 7813013, 8552191, 9503025,
SMART BIR, AAA,
UP_KEYWORDS 3D-structure, Alternative splicing, Apoptosis, ATP-binding, Complete proteome, Immunity, Inflammatory response, Innate immunity, Metal-binding, Nucleotide-binding, Polymorphism, Protease inhibitor, Proteomics identification, Reference proteome, Repeat, Thiol protease inhibitor, Zinc,
UP_SEQ_FEATURE chain:Baculoviral IAP repeat-containing protein 1, domain:NACHT, helix, metal ion-binding site:Zinc, repeat:BIR 1, repeat:BIR 2, repeat:BIR 3, sequence conflict, sequence variant, strand, turn,
UP_TISSUE Brain, Fetal brain, Liver, Pre-B cell,
729262 NUT family member 2B(NUTM2B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188199,
INTERPRO Nuclear Testis protein, N-terminal, Nuclear Testis protein/FAM22,
OFFICIAL_GENE_SYMBOL NUTM2B,
PFAM NUT protein N terminus,
PUBMED_ID 16713569,
UP_KEYWORDS Alternative splicing, Complete proteome, Reference proteome,
UP_SEQ_FEATURE chain:Protein FAM22B, compositionally biased region:Poly-Pro, compositionally biased region:Pro-rich, splice variant,
10611 PDZ and LIM domain 5(PDLIM5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163110,
GAD_DISEASE Bipolar Disorder, Cholesterol, Cholesterol, LDL, Chronic renal failure|Kidney Failure, Chronic, Depression, Parietal Lobe, prostate cancer, Prostatic Neoplasms, Schizophrenia, schizophrenia; bipolar disorder,
GOTERM_BP_DIRECT regulation of synapse assembly, regulation of dendritic spine morphogenesis, cell growth involved in cardiac muscle cell development, cell-cell adhesion,
GOTERM_CC_DIRECT cytoplasm, cytosol, cell-cell adherens junction, postsynaptic density, actin cytoskeleton, membrane, neuron projection, postsynaptic membrane,
GOTERM_MF_DIRECT actin binding, protein kinase C binding, protein binding, zinc ion binding, actinin binding, protein N-terminus binding, cadherin binding involved in cell-cell adhesion,
INTERPRO PDZ domain, Zinc finger, LIM-type,
OFFICIAL_GENE_SYMBOL PDLIM5,
PFAM LIM domain, PDZ domain (Also known as DHR or GLGF),
PUBMED_ID 10429367, 10737800, 10833443, 11076863, 11230166, 11256614, 12477932, 12665800, 14743183, 15334068, 15342556, 15346770, 15362566, 15489334, 15489336, 15555569, 16044170, 16189514, 16213469, 16344560, 16381901, 16549780, 16595163, 16713569, 17081983, 17287082, 18021463, 18197271, 18296710, 18456508, 18496208, 18496210, 19328558, 19448850, 19636345, 19738201, 19767753, 20564319, 20878950, 21266195, 22589738, 22741436, 22863883, 22939629, 23031404, 24064681, 24169447, 24457600, 25281560, 25416956, 25468996, 25852190, 25900982, 25921289, 26186194, 26344197, 26638075, 26673895, 7698749, 8889548, 8940095,
SMART LIM, PDZ,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Cell junction, Cell membrane, Complete proteome, Cytoplasm, Direct protein sequencing, LIM domain, Membrane, Metal-binding, Phosphoprotein, Polymorphism, Postsynaptic cell membrane, Proteomics identification, Reference proteome, Repeat, Synapse, Synaptosome, Zinc,
UP_SEQ_FEATURE chain:PDZ and LIM domain protein 5, domain:LIM zinc-binding 1, domain:LIM zinc-binding 2, domain:LIM zinc-binding 3, domain:PDZ, helix, modified residue, sequence variant, strand, turn,
UP_TISSUE Brain, Epithelium, Liver, Placenta, Platelet, Skeletal muscle, Skin,
5174 PDZ domain containing 1(PDZK1) Related Genes Homo sapiens
BIOCARTA Downregulated of MTA-3 in ER-negative Breast Tumors,
ENSEMBL_GENE_ID ENSG00000174827,
GAD_DISEASE Bone Density, Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance, Gout, metabolic syndrome, serum uric acid, Type 2 Diabetes| edema | rosiglitazone, Uric Acid, uric acid concentrations,
GOTERM_BP_DIRECT transport, cell proliferation, carnitine transport, drug transport, positive regulation of ion transmembrane transport, regulation of anion transport, positive regulation of protein targeting to membrane,
GOTERM_CC_DIRECT plasma membrane, apical plasma membrane, brush border membrane, microvillus membrane, membrane raft, extracellular exosome,
GOTERM_MF_DIRECT scavenger receptor binding, transporter activity, protein binding, PDZ domain binding, protein complex binding,
INTERPRO PDZ domain,
OFFICIAL_GENE_SYMBOL PDZK1,
PFAM PDZ domain (Also known as DHR or GLGF),
PUBMED_ID 10496535, 10829064, 11051556, 11076863, 11099500, 12063253, 12119305, 12424224, 12471024, 12477932, 12615054, 12754212, 12837682, 14531806, 14551195, 14702039, 15215163, 15304510, 15489334, 15489336, 15494376, 15523054, 15553237, 15766278, 15767854, 15994332, 16012170, 16141316, 16189514, 16192282, 16236806, 16381901, 16710414, 16738539, 17507652, 17602283, 17990980, 18029348, 18045536, 18403724, 18955051, 19056867, 19091402, 19173579, 19321583, 19421056, 19447883, 19503597, 19535329, 19861489, 19890391, 19913121, 20162742, 20162743, 20237154, 20628086, 20632170, 20855565, 20884846, 20949066, 21059598, 21183661, 21653824, 21832049, 22528496, 22696060, 23263486, 23376485, 23457445, 23547718, 23821363, 24152035, 24436471, 24728453, 24869908, 25271043, 25348485, 25362723, 25526531, 25562428, 26183824, 9461128, 9924606,
SMART PDZ,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell membrane, Complete proteome, Membrane, Phosphoprotein, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Na(+)/H(+) exchange regulatory cofactor NHE-RF3, domain:PDZ 1, domain:PDZ 2, domain:PDZ 3, domain:PDZ 4, helix, modified residue, sequence conflict, strand, turn,
UP_TISSUE Colon,
728378 POTE ankyrin domain family member F(POTEF) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000196604,
GOTERM_BP_DIRECT retina homeostasis,
GOTERM_CC_DIRECT extracellular space, cell cortex, extracellular exosome, blood microparticle,
INTERPRO Ankyrin repeat, Actin-related protein, Actin, conserved site, Ankyrin repeat-containing domain, Actin/actin-like conserved site,
PFAM Actin, Ankyrin repeats (3 copies),
PUBMED_ID 15815621, 16824795, 17101985, 19669888, 21800051, 22516433, 22664934, 22944692, 23533145, 23580065, 24189400, 24639526, 26186194, 26460568,
SMART ANK, ACTIN,
UP_KEYWORDS ANK repeat, Coiled coil, Complete proteome, Cytoplasm, Isopeptide bond, Reference proteome, Repeat, Ubl conjugation,
UP_SEQ_FEATURE chain:POTE ankyrin domain family member F, modified residue, region of interest:Actin-like, repeat:ANK 1, repeat:ANK 2, repeat:ANK 3, repeat:ANK 4, repeat:ANK 5, sequence conflict,
UP_TISSUE Hepatocellular carcinoma, Mammary cancer,
5460 POU class 5 homeobox 1(POU5F1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204531,
GAD_DISEASE Abortion, Spontaneous, Behcet Syndrome, Lupus, Lupus Erythematosus, Systemic, Multiple Sclerosis, Psoriasis, Stevens-Johnson Syndrome, Tobacco Use Disorder,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, endodermal cell fate specification, blastocyst development, BMP signaling pathway involved in heart induction, transcription, DNA-templated, regulation of transcription, DNA-templated, transcription from RNA polymerase II promoter, response to wounding, anatomical structure morphogenesis, regulation of asymmetric cell division, regulation of gene expression, positive regulation of gene expression, negative regulation of gene expression, somatic stem cell population maintenance, positive regulation of catenin import into nucleus, mRNA transcription from RNA polymerase II promoter, positive regulation of transcription from RNA polymerase II promoter, positive regulation of SMAD protein import into nucleus, cell fate commitment involved in formation of primary germ layer, cardiac cell fate determination, negative regulation of gene silencing by miRNA, regulation of heart induction by regulation of canonical Wnt signaling pathway, regulation of methylation-dependent chromatin silencing,
GOTERM_CC_DIRECT nuclear chromatin, nucleus, nucleoplasm, transcription factor complex, cytoplasm, cytosol,
GOTERM_MF_DIRECT transcription regulatory region sequence-specific DNA binding, RNA polymerase II transcription factor activity, sequence-specific DNA binding, enhancer sequence-specific DNA binding, transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding, DNA binding, transcription factor activity, sequence-specific DNA binding, protein binding, transcription factor binding, cytokine binding, ubiquitin protein ligase binding, miRNA binding, sequence-specific DNA binding, transcription regulatory region DNA binding, poly(A) RNA binding,
INTERPRO POU-specific, Homeodomain, Homeodomain-like, Lambda repressor-like, DNA-binding domain, POU domain, POU domain-containing protein, class 5, Homeobox, conserved site,
KEGG_PATHWAY Signaling pathways regulating pluripotency of stem cells,
PFAM Homeobox domain, Pou domain - N-terminal to homeobox domain,
PUBMED_ID 10082529, 10742100, 11096094, 11099378, 11689681, 11891324, 12477932, 12653732, 12727846, 12841847, 12923055, 1408763, 15047715, 15105401, 15342930, 15467907, 15513931, 15523054, 15615706, 15625129, 15695770, 15729702, 15749924, 15790780, 15917470, 16149048, 16153702, 16229821, 16421218, 16557044, 16582099, 16702430, 16892178, 16916925, 16951404, 17011492, 17068183, 17093407, 17136117, 17205510, 17211834, 17226773, 1723621, 17245123, 17273778, 17314032, 17314394, 17379765, 17390031, 17409736, 17413979, 17506876, 17525163, 17549357, 17554336, 17573914, 17682839, 17761754, 17923501, 17959850, 17982423, 18000303, 18029452, 18032701, 18088417, 18157115, 18191611, 18199879, 18231740, 18254969, 18269588, 18281244, 18295396, 18338169, 18339675, 18366076, 18388306, 18439155, 18440631, 18467432, 18593985, 18594515, 18612434, 18617685, 18676852, 18687992, 18710938, 18757296, 18765667, 18787205, 18806776, 18810488, 18818365, 18946985, 18957414, 18985733, 19023518, 19058139, 19060217, 19102659, 19103427, 19126554, 19170206, 19171782, 19203577, 19224167, 19224238, 19271143, 19274063, 19274762, 19327014, 19347886, 19350677, 19383152, 19394308, 19396148, 19409607, 19414369, 19438894, 19445899, 19458492, 19483629, 19489092, 19528230, 19536159, 19549847, 19559696, 19657699, 19696409, 19718018, 19736317, 19751112, 19777066, 19816951, 19851445, 19884257, 19898493, 19966271, 19968627, 19969351, 19997087, 20027182, 20034424, 20038322, 20051954, 20054811, 20074550, 20101213, 20103622, 20123703, 20139178, 20171362, 20173672, 20203285, 20224565, 20224970, 20230781, 20333750, 20347080, 20356403, 20379614, 20404147, 20412569, 20412747, 20433421, 20458727, 20462980, 20477760, 20497257, 20505756, 20505821, 20508149, 20510497, 20526341, 20587610, 20594032, 20647538, 20662612, 20698766, 20713518, 20721963, 20736927, 20805580, 20818602, 20824712, 20858707, 20879854, 20881960, 20937145, 20942235, 20953172, 20958186, 20981110, 21048921, 21107090, 21135096, 21151097, 21151833, 21159654, 21166886, 21227461, 21262915, 21273125, 21301344, 21323541, 21365617, 21376027, 21394007, 21403679, 21419292, 21477851, 21479367, 21480394, 21496429, 21533858, 21547540, 21559451, 21602143, 21602158, 21631526, 21674242, 21684074, 21692598, 21725800, 21798248, 21801394, 21804543, 21828274, 21844352, 21852325, 21868340, 21900452, 21912425, 21938739, 21946204, 21947321, 21951846, 21960344, 21962512, 21987575, 22014056, 22037460, 22160855, 22207173, 22247013, 22252524, 22286766, 22300949, 22301499, 22311737, 22340650, 22363145, 22378186, 22387393, 22392999, 22393366, 22396540, 22429998, 22446105, 22448662, 22474382, 22482508, 22506928, 22528324, 22576801, 22588915, 22613719, 22658674, 22727933, 22743827, 22777760, 22795133, 22824146, 22832160, 22837720, 22844522, 22847005, 22901285, 22903480, 22914767, 22922943, 22944295, 23000165, 23002208, 23024368, 23041284, 23052207, 23076549, 23088399, 23136034, 23185410, 23211052, 23213213, 23255053, 23276226, 23279472, 23290742, 23302226, 23307247, 23314702, 23340171, 23349823, 23388106, 23391989, 23433354, 23438193, 23499384, 23525564, 23539445, 23541921, 23545524, 23549118, 23588367, 23594289, 23601300, 23609451, 23613252, 23613880, 23615404, 23636800, 23643069, 23670345, 23736381, 23828673, 23863554, 23872274, 23887079, 23917144, 23921511, 23928699, 23932306, 23933063, 23955597, 23963638, 23984394, 24038750, 24070213, 24073944, 24105929, 24145198, 24182453, 24256943, 24320714, 24324071, 24336974, 24370212, 24373696, 24386189, 24387977, 24413464, 24427323, 24450601, 24457968, 24475251, 24481450, 24481676, 24497960, 24509480, 24532469, 24568633, 24581739, 24586860, 24607276, 24627557, 24694094, 24700702, 24740884, 24845530, 24859837, 24870750, 24871033, 24934529, 24944491, 24945968, 24954502, 24966958, 24971534, 24983502, 25008565, 25017645, 25037576, 25057990, 25124662, 25128069, 25174942, 25175483, 25175567, 25223935, 25301732, 25322154, 25324523, 25328136, 25353179, 25355160, 25355676, 25405855, 25420671, 25422984, 25464862, 25474139, 25474420, 25564572, 25603874, 25609695, 25625591, 25634023, 25644290, 25664710, 25754111, 25815323, 25816351, 25826722, 25858147, 25879771, 25880909, 25907774, 25911324, 25921273, 26013162, 26102294, 26125892, 26152287, 26186194, 26202933, 26230571, 26260289, 26339387, 26398480, 26411902, 26417682, 26426078, 26483189, 26507003, 26562475, 26687479, 26769970, 26927547, 26940070, 26992828, 26996130, 27067776, 7908264, 8088794, 8500351, 8567814, 8889549, 9368058, 9814708,
SMART POU, HOX,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Developmental protein, DNA-binding, Homeobox, Isopeptide bond, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transcription, Transcription regulation, Ubl conjugation,
UP_SEQ_FEATURE chain:POU domain, class 5, transcription factor 1, cross-link:Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO), DNA-binding region:Homeobox, domain:POU-specific, sequence conflict, sequence variant, splice variant,
UP_TISSUE Heart, Kidney, Lung, Peripheral blood leukocyte, Skeletal muscle,
5463 POU class 6 homeobox 1(POU6F1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000184271,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, brain development, heart development, muscle organ development,
GOTERM_CC_DIRECT nucleus, actin cytoskeleton,
GOTERM_MF_DIRECT RNA polymerase II regulatory region sequence-specific DNA binding, DNA binding, transcription factor activity, sequence-specific DNA binding,
INTERPRO POU-specific, Homeodomain, Homeodomain-like, Lambda repressor-like, DNA-binding domain, POU domain,
PFAM Homeobox domain, Pou domain - N-terminal to homeobox domain,
PUBMED_ID 12477932, 1408763, 14702039, 15489334, 16344560, 18029348, 18323601, 18976975, 19450691, 19874398, 20134265, 7908264, 8102789, 8567814, 8889548,
SMART POU, HOX,
UP_KEYWORDS 3D-structure, Complete proteome, DNA-binding, Homeobox, Nucleus, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:POU domain, class 6, transcription factor 1, compositionally biased region:Gln/Pro-rich, DNA-binding region:Homeobox, domain:POU-specific, helix, sequence conflict, turn,
UP_TISSUE Brain, PCR rescued clones, Skeletal muscle,
390999 PRAME family member 12(PRAMEF12) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000116726,
GOTERM_BP_DIRECT positive regulation of cell proliferation, negative regulation of apoptotic process, negative regulation of cell differentiation, negative regulation of transcription, DNA-templated,
INTERPRO PRAME family,
PIR_SUPERFAMILY PRAME family protein,
PUBMED_ID 16710414,
UP_KEYWORDS Complete proteome, Leucine-rich repeat, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:PRAME family member 12, repeat:LRR 1, repeat:LRR 2, repeat:LRR 3, sequence variant,
8500 PTPRF interacting protein alpha 1(PPFIA1) Related Genes Homo sapiens
COG_ONTOLOGY Cell division and chromosome partitioning,
ENSEMBL_GENE_ID ENSG00000131626,
GOTERM_BP_DIRECT cell-matrix adhesion, signal transduction, neurotransmitter secretion, glutamate secretion, negative regulation of stress fiber assembly, negative regulation of establishment of protein localization to plasma membrane,
GOTERM_CC_DIRECT cytoplasm, cytosol, focal adhesion, integral component of membrane, presynaptic active zone,
GOTERM_MF_DIRECT signal transducer activity, protein binding,
INTERPRO Sterile alpha motif domain, Sterile alpha motif/pointed domain,
PFAM SAM domain (Sterile alpha motif), SAM domain (Sterile alpha motif),
PUBMED_ID 10737800, 11931740, 12477932, 12629171, 12923177, 14702039, 15217342, 15324660, 15489334, 16189514, 16313174, 16713569, 16973615, 17081983, 17363573, 17419996, 18196592, 18782753, 19060904, 19156129, 19690048, 19787783, 20096687, 20467437, 21145461, 21157931, 21516116, 22072677, 22266902, 22295056, 22863883, 23443559, 23453270, 24255178, 24722188, 24778252, 24982445, 25184681, 25416956, 25492966, 25921289, 26186194, 26344197, 26362536, 26496610, 7796809, 8524829, 9624153,
SMART SAM,
UP_KEYWORDS 3D-structure, Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Liprin-alpha-1, compositionally biased region:Poly-Gly, domain:SAM 1, domain:SAM 2, domain:SAM 3, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Epithelium,
115273 RAB42, member RAS oncogene family(RAB42) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188060,
GOTERM_BP_DIRECT small GTPase mediated signal transduction,
GOTERM_CC_DIRECT intracellular, membrane,
GOTERM_MF_DIRECT GTP binding,
INTERPRO Small GTPase superfamily, P-loop containing nucleoside triphosphate hydrolase,
PFAM Ras family,
PUBMED_ID 12477932, 15489334, 16710414,
UP_KEYWORDS Complete proteome, GTP-binding, Lipoprotein, Membrane, Methylation, Nucleotide-binding, Prenylation, Reference proteome,
UP_SEQ_FEATURE chain:Putative Ras-related protein Rab-42, lipid moiety-binding region:S-geranylgeranyl cysteine, modified residue, nucleotide phosphate-binding region:GTP,
UP_TISSUE Kidney,
731220 RFX family member 8, lacking RFX DNA binding domain(RFX8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000196460,
GAD_DISEASE Blood Pressure, Cholesterol, HDL, Hematocrit, Hemoglobins,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, endocrine pancreas development,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT RNA polymerase II core promoter proximal region sequence-specific DNA binding, DNA binding, transcription factor activity, sequence-specific DNA binding,
INTERPRO DNA-binding RFX-type winged-helix domain, Winged helix-turn-helix DNA-binding domain,
PFAM RFX DNA-binding domain,
PUBMED_ID 11181995, 14702039, 15815621, 23518928,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Nucleus, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Uncharacterized protein FLJ42986, sequence conflict, splice variant,
UP_TISSUE Thalamus,
85376 RIMS binding protein 3(RIMBP3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000275793,
GOTERM_MF_DIRECT protein binding,
INTERPRO Src homology-3 domain, Fibronectin, type III, Variant SH3, Immunoglobulin-like fold,
PFAM Variant SH3 domain, Variant SH3 domain,
PUBMED_ID 10591208, 11258795, 12477932, 15489334, 17855024, 18029348, 21516116, 23128233, 24722188, 25416956,
SMART SH3,
UP_KEYWORDS 3D-structure, Coiled coil, Complete proteome, Phosphoprotein, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:RIMS-binding protein 3A, compositionally biased region:Pro-rich, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:SH3 1, domain:SH3 2, domain:SH3 3, sequence conflict, sequence variant, strand, turn,
UP_TISSUE Brain, Testis,
8780 RIO kinase 3(RIOK3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000101782,
GOTERM_BP_DIRECT rRNA processing, protein phosphorylation, chromosome segregation,
GOTERM_CC_DIRECT cytosol,
GOTERM_MF_DIRECT protein serine/threonine kinase activity, protein binding, ATP binding, metal ion binding,
INTERPRO RIO kinase, Protein kinase-like domain, Serine/threonine-protein kinase Rio3, RIO kinase, conserved site,
PIR_SUPERFAMILY serine/threonine-protein kinase RIO3,
PUBMED_ID 12477932, 14702039, 15489334, 16177791, 16196087, 16344560, 17353931, 18029348, 19050074, 19285159, 19322201, 21988832, 22418843, 22658674, 23940030, 24018050, 24807708, 25486436, 25865883, 26186194, 26496610, 26673895, 9602165,
SMART RIO,
UP_KEYWORDS Alternative splicing, ATP-binding, Complete proteome, Kinase, Magnesium, Metal-binding, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Serine/threonine-protein kinase, Transferase,
UP_SEQ_FEATURE active site:Proton acceptor, binding site:ATP, chain:Serine/threonine-protein kinase RIO3, domain:Protein kinase, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Testis,
375316 RNA binding motif protein 44(RBM44) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000177483,
GOTERM_CC_DIRECT cytoplasm, intercellular bridge,
GOTERM_MF_DIRECT nucleotide binding, nucleic acid binding, RNA binding, protein homodimerization activity,
INTERPRO RNA recognition motif domain, Nucleotide-binding, alpha-beta plait,
PFAM RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain),
PUBMED_ID 12477932, 14702039, 16344560, 18029348,
SMART RRM,
UP_KEYWORDS Complete proteome, Cytoplasm, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, RNA-binding,
UP_SEQ_FEATURE chain:RNA-binding protein 44, domain:RRM, sequence variant,
UP_TISSUE Prostate, Testis,
54700 RRN3 homolog, RNA polymerase I transcription factor(RRN3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000085721,
GOTERM_BP_DIRECT in utero embryonic development, transcription initiation from RNA polymerase I promoter, nucleolus organization, cytoplasm organization, cell proliferation, positive regulation of neuron projection development, ribosome biogenesis, positive regulation of transcription, DNA-templated, homeostasis of number of cells, negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator, regulation of DNA-templated transcription, initiation,
GOTERM_CC_DIRECT nucleus, nucleoplasm, nucleolus,
GOTERM_MF_DIRECT RNA polymerase I CORE element sequence-specific DNA binding, translation initiation factor activity, RNA polymerase binding,
INTERPRO RNA polymerase I specific transcription initiation factor RRN3,
PFAM RNA polymerase I specific transcription initiation factor RRN3,
PUBMED_ID 10758157, 11250903, 11265758, 12393749, 12477932, 12620228, 12646563, 15004009, 15489334, 15558034, 18029348, 18047649, 18559419, 19214185, 19322201, 19615732, 21940764, 22368283, 22939629, 23393135, 24297901, 24823311, 25737280, 26186194, 26496610, 8125298, 8889548,
UP_KEYWORDS Alternative splicing, Complete proteome, Initiation factor, Nucleus, Phosphoprotein, Polymorphism, Protein biosynthesis, Proteomics identification, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:RNA polymerase I-specific transcription initiation factor RRN3, modified residue, mutagenesis site, region of interest:Interaction with EIF3L, region of interest:Interaction with TWISTNB, sequence variant,
UP_TISSUE Hippocampus, Kidney, Pooled, Spleen,
83547 Rab interacting lysosomal protein(RILP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000167705,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT endosome to lysosome transport, regulation of multivesicular body size, protein transport, antigen processing and presentation of exogenous peptide antigen via MHC class II, endosome transport via multivesicular body sorting pathway, negative regulation of protein catabolic process, early endosome to late endosome transport, positive regulation of protein catabolic process, cilium morphogenesis, intralumenal vesicle formation,
GOTERM_CC_DIRECT mitochondrion, lysosome, lysosomal membrane, late endosome, cytosol, phagocytic vesicle membrane, late endosome membrane, ciliary basal body, protein complex,
GOTERM_MF_DIRECT protein binding, zinc ion binding, Rab GTPase binding, small GTPase binding, dynein light intermediate chain binding,
INTERPRO PET domain, JNK/Rab-associated protein-1, N-terminal, Rab interacting lysosomal protein,
KEGG_PATHWAY Phagosome, Salmonella infection,
PFAM PET Domain, JNK_SAPK-associated protein-1, Rab interacting lysosomal protein,
PUBMED_ID 11179213, 11448994, 11520070, 11696325, 12475955, 12477932, 12621583, 12944476, 14668488, 14702039, 15489334, 15498874, 15933719, 15996637, 16417580, 16631113, 16857164, 17010938, 17959629, 18272684, 18330356, 18552835, 18787122, 18922795, 19286658, 19564404, 19913121, 20012524, 20628086, 20877624, 21988832, 22261744, 23729732, 24762812, 25272277, 25445562, 26180254, 26469971, 26496610, 26911690,
UP_KEYWORDS 3D-structure, Alternative splicing, Coiled coil, Complete proteome, Cytoplasmic vesicle, Endosome, Lysosome, Membrane, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Transport,
UP_SEQ_FEATURE chain:Rab-interacting lysosomal protein, domain:RILP-like, helix, modified residue, mutagenesis site, region of interest:Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Cervix carcinoma, Kidney, Lung, Skeletal muscle, Testis, Thalamus, Uterus,
6006 Rh blood group CcEe antigens(RHCE) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188672,
GAD_DISEASE Blood Group Incompatibility|Rh Isoimmunization, cirrhosis, alcoholic, Malaria, null, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT organic cation transport, nitrogen utilization, ammonium transmembrane transport,
GOTERM_CC_DIRECT integral component of plasma membrane, membrane, integral component of membrane,
GOTERM_MF_DIRECT ammonium transmembrane transporter activity,
INTERPRO Ammonium transporter, Blood group Rhesus C/E/D polypeptide, Ammonium transporter AmtB-like domain,
OMIM_DISEASE Blood group, Rhesus, Rh-null disease, amorph type,
PFAM Ammonium Transporter Family,
PUBMED_ID 10627438, 10924335, 10938938, 11161244, 11380456, 11436564, 11493738, 11724987, 11861637, 11902138, 12084172, 12201845, 12393640, 12477932, 12857961, 1379850, 1438298, 14996197, 14996199, 15023184, 15373666, 15783300, 16563829, 16584906, 16686844, 16722361, 1696722, 17080665, 17140342, 17298125, 17900276, 18382999, 18460195, 1898705, 1900257, 1907207, 19076333, 19170983, 19207167, 19453979, 19453980, 19913121, 19951310, 20233350, 2045679, 20576012, 20628086, 20932075, 2123099, 21251469, 21517889, 22690701, 22738288, 22804620, 22958092, 23252593, 23286557, 23550903, 23742316, 23772606, 24033223, 24333089, 24960646, 25582271, 25695437, 25857637, 26286238, 26435076, 3135863, 3146980, 7789951, 7916743, 8117271, 8188244, 8220426, 8808597, 8822955, 8889548, 8900235, 9087447, 9657769,
UP_KEYWORDS Alternative splicing, Blood group antigen, Complete proteome, Direct protein sequencing, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Blood group Rh(CE) polypeptide, sequence conflict, sequence variant, splice variant, transmembrane region,
UP_TISSUE Blood, Bone marrow, Brain, Colon, Peripheral blood, Peripheral whole blood,
58504 Rho GTPase activating protein 22(ARHGAP22) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000128805,
GAD_DISEASE Alzheimer's disease , Blood Pressure, Conduct Disorder, Hip, Tobacco Use Disorder,
GOTERM_BP_DIRECT angiogenesis, transcription, DNA-templated, regulation of transcription, DNA-templated, signal transduction, cell differentiation, positive regulation of GTPase activity, regulation of small GTPase mediated signal transduction,
GOTERM_CC_DIRECT nucleus, cytosol, focal adhesion,
GOTERM_MF_DIRECT GTPase activator activity, protein binding,
INTERPRO Rho GTPase-activating protein domain, Pleckstrin homology domain, Rho GTPase activation protein, Pleckstrin homology-like domain,
OFFICIAL_GENE_SYMBOL ARHGAP22,
PFAM PH domain, RhoGAP domain,
PUBMED_ID 12477932, 14702039, 15254788, 15489334, 16344560, 16385451, 20379614, 20585324, 21078624, 21310492, 21423176, 21926414, 21969604, 22952583, 23593239, 25416956, 8619474,
SMART PH, RhoGAP,
UP_KEYWORDS Alternative splicing, Angiogenesis, Coiled coil, Complete proteome, Cytoplasm, Developmental protein, Differentiation, GTPase activation, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Rho GTPase-activating protein 22, compositionally biased region:Ser-rich, domain:PH, domain:Rho-GAP, modified residue, sequence variant, splice variant,
UP_TISSUE Brain, Erythroleukemia, Lung,
23370 Rho/Rac guanine nucleotide exchange factor 18(ARHGEF18) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000104880, ENSG00000268861,
GOTERM_BP_DIRECT transforming growth factor beta receptor signaling pathway, small GTPase mediated signal transduction, regulation of cell shape, actin cytoskeleton organization, regulation of Rho protein signal transduction, positive regulation of apoptotic process, positive regulation of GTPase activity, regulation of small GTPase mediated signal transduction,
GOTERM_CC_DIRECT cytoplasm, cytosol, cytoskeleton, apical plasma membrane, cell junction, apical part of cell, extracellular exosome,
GOTERM_MF_DIRECT guanyl-nucleotide exchange factor activity, Rho guanyl-nucleotide exchange factor activity,
INTERPRO Dbl homology (DH) domain, Pleckstrin homology domain, Pleckstrin homology-like domain,
OFFICIAL_GENE_SYMBOL ARHGEF18,
PFAM PH domain, RhoGEF domain,
PUBMED_ID 11085924, 11318610, 11756498, 12376548, 12477932, 12787561, 14512443, 16344560, 17643375, 18029348, 18570454, 20200978, 20810787, 20811636, 21258369, 22006950, 22445761, 23185572, 23648482, 26186194, 26217016, 26638075, 9628581,
SMART PH, RhoGEF,
UP_KEYWORDS Alternative splicing, Cell membrane, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Guanine-nucleotide releasing factor, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Rho guanine nucleotide exchange factor 18, compositionally biased region:Pro-rich, domain:DH, domain:PH, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Lymph,
645922 S100 calcium binding protein A7 like 2(S100A7L2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000197364,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO EF-hand domain, EF-hand-like domain, S100/CaBP-9k-type, calcium binding, subdomain, EF-Hand 1, calcium-binding site,
PFAM S-100/ICaBP type calcium binding domain,
PUBMED_ID 12664160, 16710414,
UP_KEYWORDS Calcium, Complete proteome, Metal-binding, Reference proteome, Repeat, Zinc,
UP_SEQ_FEATURE calcium-binding region:2; high affinity, chain:Protein S100-A7-like 2, domain:EF-hand 1, domain:EF-hand 2, metal ion-binding site:Zinc,
9919 SEC16 homolog A, endoplasmic reticulum export factor(SEC16A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000148396,
GOTERM_BP_DIRECT endoplasmic reticulum organization, protein transport, substantia nigra development, COPII vesicle coating,
GOTERM_CC_DIRECT Golgi membrane, cytoplasm, endoplasmic reticulum membrane, Golgi apparatus, cytosol,
GOTERM_MF_DIRECT protein binding,
INTERPRO Sec16, central conserved domain, COPII coat assembly protein, Sec16,
PFAM Sec23-binding domain of Sec16, Vesicle coat trafficking protein Sec16 mid-region,
PUBMED_ID 12168954, 12477932, 14702039, 14743216, 15164053, 15302935, 15489334, 16751776, 16964243, 17005010, 17081983, 17192411, 17428803, 18457437, 19380743, 19542561, 19638414, 20811636, 21045114, 21145461, 21297633, 21565611, 21697133, 21768384, 22347445, 22424054, 22543157, 22586326, 22740409, 22792062, 22863883, 22926577, 23383273, 23398456, 23443559, 23455922, 23667531, 23752268, 24255178, 24457600, 24711643, 25201882, 25281560, 25526736, 25756610, 25852190, 25921289, 25956157, 25963833, 26186194, 26344197, 26496610, 26549023, 26638075, 26673895, 8889548, 9205841,
UP_KEYWORDS Alternative splicing, Complete proteome, Endoplasmic reticulum, ER-Golgi transport, Golgi apparatus, Membrane, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Signal, Transport,
UP_SEQ_FEATURE chain:Protein transport protein Sec16A, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Tyr, compositionally biased region:Pro-rich, modified residue, region of interest:Required for endoplasmic reticulum localization, region of interest:Required for interaction with SEC23A, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Epithelium, Liver, Lung, Placenta, Prostate, Testis, Whole embryo,
389763 SPATA31 subfamily D member 1(SPATA31D1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000214929,
GOTERM_BP_DIRECT spermatogenesis, cell differentiation,
GOTERM_CC_DIRECT integral component of membrane,
PFAM Domain of unknown function (DUF4599),
UP_KEYWORDS Complete proteome, Differentiation, Membrane, Reference proteome, Spermatogenesis, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:FAM75-like protein FLJ46321, compositionally biased region:Pro-rich, modified residue, transmembrane region,
UP_TISSUE Testis,
286234 SPATA31 subfamily E member 1(SPATA31E1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000177992,
GOTERM_BP_DIRECT spermatogenesis, cell differentiation,
GOTERM_CC_DIRECT integral component of membrane,
PFAM Domain of unknown function (DUF4599),
PUBMED_ID 12477932, 14702039, 15164053, 20467438,
UP_KEYWORDS Complete proteome, Differentiation, Glycoprotein, Membrane, Polymorphism, Reference proteome, Spermatogenesis, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:FAM75-like protein C9orf79, compositionally biased region:Pro-rich, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, transmembrane region,
UP_TISSUE Testis,
23353 Sad1 and UNC84 domain containing 1(SUN1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000164828,
GAD_DISEASE Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage, Celiac Disease|, hypertension, Tobacco Use Disorder,
GOTERM_BP_DIRECT ossification, nuclear envelope organization, synapsis, response to mechanical stimulus, cytoskeletal anchoring at nuclear membrane, nuclear matrix anchoring at nuclear membrane,
GOTERM_CC_DIRECT acrosomal membrane, nuclear envelope, integral component of nuclear inner membrane, integral component of membrane, nuclear membrane, LINC complex, intracellular membrane-bounded organelle,
GOTERM_MF_DIRECT protein binding, lamin binding,
INTERPRO Sad1/UNC-like, C-terminal,
PFAM Sad1 / UNC-like C-terminal , Mitochondrial RNA binding protein MRP,
PUBMED_ID 10375507, 11593002, 12036294, 12477932, 12958361, 14702039, 15489334, 16079285, 16344560, 16380439, 16445915, 17081983, 17132086, 17631499, 17724119, 18029348, 18396275, 19240061, 19851296, 19933576, 20108321, 20198315, 20379614, 21311568, 21727197, 22190034, 22268729, 22541428, 22632968, 24375709, 24522183, 24662567, 24711643, 25057012, 25210889, 25482198, 25693804, 26186194, 26356418, 26476453, 26496610, 26638075, 8889548, 9872452,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Membrane, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Signal-anchor, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Protein unc-84 homolog A, domain:SUN, modified residue, region of interest:EMD-binding, region of interest:LMNA-binding, region of interest:SYNE2-binding, sequence conflict, sequence variant, splice variant, topological domain:Nuclear, topological domain:Perinuclear space, transmembrane region,
UP_TISSUE Brain, Cerebellum, Donated clones, Epithelium, Mammary gland, Ovary,
6894 TAR (HIV-1) RNA binding protein 1(TARBP1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000059588,
GAD_DISEASE Cognitive test performance, Coronary Disease, Hip, Myocardial Infarction, Neuropsychological Tests, Tobacco Use Disorder,
GOTERM_BP_DIRECT regulation of transcription from RNA polymerase II promoter, tRNA methylation,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT RNA binding, tRNA (guanine) methyltransferase activity,
INTERPRO tRNA/rRNA methyltransferase, SpoU, Armadillo-type fold, Probable methyltransferase TARBP1,
PFAM SpoU rRNA Methylase family,
PUBMED_ID 12458222, 12477932, 14559993, 14702039, 16710414, 17360756, 1752441, 17903297, 18051367, 18412263, 1936997, 19422693, 19615732, 20379614, 21294215, 22025453, 25036637, 25421511, 26186194, 26344197, 26464651, 26496610, 26638075, 7638159, 8626763, 8846792,
UP_KEYWORDS 3D-structure, Acetylation, Complete proteome, Direct protein sequencing, Methyltransferase, Phosphoprotein, Polymorphism, Reference proteome, RNA-binding, S-adenosyl-L-methionine, Transferase,
UP_SEQ_FEATURE binding site:S-adenosyl-L-methionine; via amide nitrogen, binding site:S-adenosyl-L-methionine; via amide nitrogen and carbonyl oxygen, binding site:S-adenosyl-L-methionine; via carbonyl oxygen, chain:Probable methyltransferase TARBP1, compositionally biased region:Ala-rich, helix, modified residue, sequence variant, strand, turn,
57707 TBC/LysM-associated domain containing 1(TLDC1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000140950,
GAD_DISEASE Esophagitis, Hip,
GOTERM_CC_DIRECT lysosomal membrane,
GOTERM_MF_DIRECT protein binding,
INTERPRO TLDc,
PFAM TLD,
PUBMED_ID 10997877, 12477932, 14702039, 16189514, 16712791, 17897319, 19060904, 22939629, 25693804, 26186194, 26344197, 8889548, 8889549,
SMART TLDc,
UP_KEYWORDS Complete proteome, Lipoprotein, Myristate, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:TLD domain-containing protein KIAA1609, domain:TLD, sequence variant,
UP_TISSUE Brain, Kidney, Mammary cancer, Placenta,
8794 TNF receptor superfamily member 10c(TNFRSF10C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000173535,
GAD_DISEASE benzene haematotoxicity, Breast Cancer, Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia, multiple myeloma, null,
GOTERM_BP_DIRECT inflammatory response, immune response, signal transduction, multicellular organism development, extrinsic apoptotic signaling pathway via death domain receptors, response to lipopolysaccharide, tumor necrosis factor-mediated signaling pathway, regulation of cell proliferation, regulation of apoptotic process,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, integral component of membrane, anchored component of membrane,
GOTERM_MF_DIRECT transmembrane signaling receptor activity, tumor necrosis factor-activated receptor activity, TRAIL binding,
INTERPRO TNFR/NGFR cysteine-rich region, Tumour necrosis factor receptor 10,
KEGG_PATHWAY Apoptosis, Natural killer cell mediated cytotoxicity, Measles, Influenza A,
PFAM TNFR/NGFR cysteine-rich region,
PUBMED_ID 10435597, 11001921, 11024459, 11396170, 11417478, 11420819, 11442750, 11451151, 11464279, 11753607, 11844843, 11848467, 11859410, 12136286, 12390973, 12417331, 12477932, 12488957, 12808117, 12975309, 14623878, 14999791, 15207703, 15301860, 15340161, 15489334, 15538968, 15916713, 15921376, 15990565, 16046522, 16169070, 16174727, 16980609, 17522430, 17690453, 18345033, 18460741, 18511705, 18590575, 19035483, 19573080, 19661294, 19773279, 19936781, 20237496, 20451496, 20568250, 20799941, 21281967, 21483669, 22555108, 23320456, 23584885, 23602568, 24211571, 24534820, 24649804, 25808868, 26050621, 9242610, 9242611, 9314565, 9325248, 9373179, 9551946, 9613612,
SMART TNFR,
UP_KEYWORDS Apoptosis, Cell membrane, Coiled coil, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein, Membrane, Polymorphism, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Tumor necrosis factor receptor superfamily member 10C, disulfide bond, glycosylation site:N-linked (GlcNAc...) (high mannose), lipid moiety-binding region:GPI-anchor amidated alanine, propeptide:Removed in mature form, repeat:TAPE 1, repeat:TAPE 2, repeat:TAPE 3, repeat:TAPE 4, repeat:TAPE 5, repeat:TNFR-Cys 1, repeat:TNFR-Cys 2, repeat:TNFR-Cys 3, sequence conflict, sequence variant, signal peptide,
UP_TISSUE Foreskin fibroblast, Liver, Lung, Spleen,
55504 TNF receptor superfamily member 19(TNFRSF19) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000127863,
GAD_DISEASE Lung Neoplasms, Nasopharyngeal Neoplasms, null,
GOTERM_BP_DIRECT hair follicle development, apoptotic process, JNK cascade, tissue development, tumor necrosis factor-mediated signaling pathway, positive regulation of I-kappaB kinase/NF-kappaB signaling, positive regulation of JNK cascade,
GOTERM_CC_DIRECT intracellular, plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT receptor activity, tumor necrosis factor-activated receptor activity,
INTERPRO TNFR/NGFR cysteine-rich region, Tumour necrosis factor receptor 19,
KEGG_PATHWAY Cytokine-cytokine receptor interaction,
PFAM TNFR/NGFR cysteine-rich region,
PUBMED_ID 10764796, 10809768, 12060722, 12477932, 12975309, 15301860, 15340161, 15489334, 15694321, 15694322, 16344560, 17187358, 17239012, 18029348, 19641626, 20237496, 20512145, 20881009, 21127458, 22057614, 22493691, 22589738, 23142137, 23699535, 24129566, 24623448, 25189868, 26354767, 7829101,
SMART TNFR,
UP_KEYWORDS Alternative splicing, Apoptosis, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, Membrane, Polymorphism, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Tumor necrosis factor receptor superfamily member 19, disulfide bond, glycosylation site:N-linked (GlcNAc...), repeat:TNFR-Cys 1, repeat:TNFR-Cys 2, repeat:TNFR-Cys 3, sequence conflict, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain, Fetal spleen, Glial tumor,
10318 TNFAIP3 interacting protein 1(TNIP1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000145901,
GAD_DISEASE Asthma, benzene haematotoxicity, Bladder Cancer, chronic obstructive pulmonary disease, Lung Cancer, lung cancer , Lupus Erythematosus, Systemic, Lupus Erythematosus, Systemic|Lupus Nephritis|Nephritis SLE|Systemic lupus erythematosus, Psoriasis, Sclerosis, systemic lupus erythematosus, Tobacco Use Disorder,
GOTERM_BP_DIRECT MyD88-dependent toll-like receptor signaling pathway, translation, proteolysis, defense response, inflammatory response, leukocyte cell-cell adhesion, glycoprotein biosynthetic process, negative regulation of I-kappaB kinase/NF-kappaB signaling, negative regulation of viral genome replication, positive regulation of transcription from RNA polymerase II promoter, regulation of inflammatory response, positive regulation of inflammatory response, negative regulation of ERK1 and ERK2 cascade, modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade,
GOTERM_CC_DIRECT intracellular, nucleoplasm, cytoplasm,
GOTERM_MF_DIRECT thiol-dependent ubiquitin-specific protease activity, protein binding, identical protein binding, mitogen-activated protein kinase binding,
PUBMED_ID 10385526, 11090181, 11389905, 12168954, 12220502, 12477932, 12586352, 12927788, 12965196, 14526201, 14702039, 14743216, 15231748, 15342556, 15474016, 15489334, 16189514, 16344560, 16601202, 16684768, 16713569, 16964243, 17016622, 17135485, 17632516, 18029035, 18029348, 18212736, 18622428, 18676680, 19169254, 19170196, 19262574, 19277210, 19285159, 19464428, 19625176, 19692168, 19695220, 19732752, 19773279, 19838193, 19838195, 20005846, 20010814, 20379614, 20516000, 20849588, 21068098, 21266526, 21516116, 21606507, 21623003, 21674837, 21750679, 21885437, 21967852, 21988832, 22001530, 22011580, 22087647, 22093807, 22147607, 22542476, 22833143, 22896740, 23032186, 23055271, 23128233, 23273568, 23414517, 23464785, 23541940, 23740937, 23858047, 23911423, 23944604, 23970121, 24091983, 24788730, 25034154, 25165885, 25260751, 25264125, 25416956, 25447897, 25609649, 25631139, 25996949, 26046540, 26186194, 26382585, 26638075, 26673895, 26733199, 26738398, 7788527, 8681136, 9687515, 9923610,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Inflammatory response, Methylation, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:TNFAIP3-interacting protein 1, compositionally biased region:Pro-rich, modified residue, region of interest:Interacts with Nef, sequence conflict, sequence variant, short sequence motif:Nuclear localization signal, splice variant,
UP_TISSUE Bone marrow, Colon endothel, Craniofacial, Epithelium, Leukocyte, Lung, Peripheral blood,
5976 UPF1, RNA helicase and ATPase(UPF1) Related Genes Homo sapiens
COG_ONTOLOGY DNA replication, recombination, and repair,
ENSEMBL_GENE_ID ENSG00000005007,
GOTERM_BP_DIRECT nuclear-transcribed mRNA catabolic process, nonsense-mediated decay, nuclear-transcribed mRNA catabolic process, endonucleolytic cleavage-dependent decay, telomere maintenance, nuclear-transcribed mRNA catabolic process, DNA replication, DNA repair, mRNA export from nucleus, regulation of translational termination, dosage compensation by inactivation of X chromosome, telomere maintenance via semi-conservative replication, positive regulation of mRNA catabolic process, 3'-UTR-mediated mRNA destabilization, histone mRNA catabolic process, cellular response to lipopolysaccharide, cellular response to interleukin-1,
GOTERM_CC_DIRECT nuclear chromosome, telomeric region, chromatin, cytoplasmic mRNA processing body, nucleus, nucleoplasm, cytoplasm, cytosol, exon-exon junction complex, supraspliceosomal complex,
GOTERM_MF_DIRECT DNA binding, chromatin binding, RNA binding, ATP-dependent RNA helicase activity, helicase activity, protein binding, ATP binding, zinc ion binding, telomeric DNA binding, poly(A) RNA binding,
INTERPRO Helicase/UvrB domain, RNA helicase UPF1, UPF2-interacting domain, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY RNA transport, mRNA surveillance pathway,
PFAM Type III restriction enzyme, res subunit, RNA helicase (UPF2 interacting domain),
PUBMED_ID 10454541, 10999600, 11073994, 11113196, 11163187, 11331269, 11544179, 11546874, 12000843, 12228722, 12417715, 12477932, 12554878, 12723973, 12881429, 14527413, 14636577, 15057824, 15106121, 15175154, 15231747, 15489334, 15680326, 15721257, 16086026, 16186820, 16364915, 16452507, 16488880, 16601204, 16861888, 16931876, 17159905, 17220478, 17456004, 17468741, 17469741, 17803942, 17916692, 17932509, 18066079, 18256688, 18362360, 18369187, 18369367, 18423202, 18427545, 18447585, 18774934, 19150429, 19417104, 19542561, 19556969, 19704008, 19738201, 20020773, 20371770, 20467437, 20691628, 20930030, 20946641, 21029861, 21081666, 21145460, 21145461, 21182205, 21319273, 21419344, 21541368, 21749700, 21829167, 21900206, 22087843, 22156744, 22522823, 22553336, 22586326, 22622014, 22623428, 22658674, 22681889, 22817733, 22889941, 22939629, 22944692, 23125841, 23275559, 23305486, 23348841, 23404710, 23444366, 23642263, 23722113, 23785196, 23825951, 23828042, 23832275, 23881279, 24173962, 24267889, 24457600, 24726324, 24762188, 24778252, 24859531, 24965446, 24999758, 25013172, 25036637, 25053839, 25184677, 25211080, 25693804, 25775514, 25900982, 25921289, 26000482, 26138914, 26186194, 26253027, 26255671, 26344197, 26496610, 26638075, 26641092, 26656492, 26673895, 26687479, 6200476, 8855285, 9039502, 9064659, 9620853,
UP_KEYWORDS 3D-structure, Alternative splicing, ATP-binding, Complete proteome, Cytoplasm, Helicase, Hydrolase, Metal-binding, Methylation, Nonsense-mediated mRNA decay, Nucleotide-binding, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Repeat, RNA-binding, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Regulator of nonsense transcripts 1, compositionally biased region:Ala/Gly/Pro-rich, compositionally biased region:Gln/Ser-rich, helix, modified residue, mutagenesis site, nucleotide phosphate-binding region:ATP, region of interest:Sufficient for interaction with RENT2, sequence conflict, sequence variant, short sequence motif:[ST]-Q motif 1, short sequence motif:[ST]-Q motif 2, splice variant, strand, turn, zinc finger region:C2H2-type; atypical, zinc finger region:C4-type,
UP_TISSUE Bone marrow, Heart, Testis, Uterus,
391123 V-set and immunoglobulin domain containing 8(VSIG8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000243284,
GOTERM_CC_DIRECT intracellular, integral component of membrane,
GOTERM_MF_DIRECT poly(A) RNA binding,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
PFAM Immunoglobulin V-set domain,
PUBMED_ID 12477932, 19380743, 19615732, 22681889, 22990118, 25332235, 25963833, 26186194,
SMART IGv, IGc2, IG,
UP_KEYWORDS Alternative splicing, Complete proteome, Disulfide bond, Immunoglobulin domain, Membrane, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:V-set and immunoglobulin domain- containing protein 8, compositionally biased region:Poly-Cys, disulfide bond, domain:Ig-like V-type 1, domain:Ig-like V-type 2, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain,
644150 WAS/WASL interacting protein family member 3(WIPF3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000122574,
GOTERM_BP_DIRECT actin cortical patch assembly, endocytosis, multicellular organism development, spermatogenesis, regulation of cell shape, actin filament-based movement, cell differentiation, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of actin nucleation, actin cortical patch localization,
GOTERM_CC_DIRECT cytosol, actin filament, actin cortical patch,
GOTERM_MF_DIRECT SH3 domain binding, actin filament binding,
INTERPRO WH2 domain,
PFAM WH2 motif,
PUBMED_ID 11553796, 12372256, 12853948, 14506234, 14702039, 17573773, 18029348, 21348202, 21706016, 22969067, 26186194,
SMART WH2,
UP_KEYWORDS Actin-binding, Complete proteome, Cytoplasm, Developmental protein, Differentiation, Methylation, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Spermatogenesis,
UP_SEQ_FEATURE chain:WAS/WASL-interacting protein family member 3, compositionally biased region:Poly-Pro, domain:WH2, sequence variant, short sequence motif:Profilin-binding motif, short sequence motif:RLRK, short sequence motif:WASP-binding motif,
80167 abhydrolase domain containing 18(ABHD18) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000164074,
GOTERM_CC_DIRECT extracellular region,
INTERPRO Protein of unknown function DUF2048,
OFFICIAL_GENE_SYMBOL ABHD18,
PFAM Uncharacterized conserved protein (DUF2048),
PUBMED_ID 12477932, 26186194,
UP_KEYWORDS Alternative splicing, Complete proteome, Glycoprotein, Proteomics identification, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE chain:Uncharacterized protein C4orf29, glycosylation site:N-linked (GlcNAc...), modified residue, signal peptide, splice variant,
UP_TISSUE Coronary artery, Lymph,
137735 actin binding Rho activating protein(ABRA) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000174429,
GAD_DISEASE Body Mass Index, Cholesterol, Cholesterol, LDL, Echocardiography, Intercellular Adhesion Molecule-1, Lipoprotein(a), Lipoproteins, VLDL, macular degeneration,
GOTERM_BP_DIRECT protein import into nucleus, translocation, transcription, DNA-templated, positive regulation of Rho protein signal transduction, positive regulation of transcription from RNA polymerase II promoter, positive regulation of sequence-specific DNA binding transcription factor activity,
GOTERM_CC_DIRECT plasma membrane, actin cytoskeleton, sarcomere,
GOTERM_MF_DIRECT actin binding,
INTERPRO Actin-binding Rho-activating protein,
OFFICIAL_GENE_SYMBOL ABRA,
PFAM Costars,
PUBMED_ID 11076863, 11230166, 11256614, 11983702, 12477932, 14702039, 15489334, 15489336, 15798203, 16381901, 17194709, 17415416, 19255118, 21486805, 23259602, 23753523,
SMART SM01283,
UP_KEYWORDS Actin-binding, Activator, Complete proteome, Cytoplasm, Cytoskeleton, Phosphoprotein, Protein transport, Reference proteome, Transcription, Transcription regulation, Translocation, Transport,
UP_SEQ_FEATURE chain:Actin-binding Rho-activating protein, region of interest:Interaction with actin,
UP_TISSUE Skeletal muscle,
22926 activating transcription factor 6(ATF6) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000118217,
GAD_DISEASE Cardiovascular Diseases|Hyperlipidemia, Familial Combined, Cholesterol, HDL, Cholesterol, LDL, Chronic renal failure|Kidney Failure, Chronic, Diabetes Mellitus, Diabetes mellitus type II|Diabetes Mellitus, Type 2, diabetes, type 2, diabetes, type 2 glucose tolerance, diabetes, type 2 insulin, Echocardiography, Heart Failure, Lipids, longevity, Neuroblastoma, Parkinson Disease, Parkinson's disease (age of onset), Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT eye development, transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, protein folding, response to stress, positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response, signal transduction, visual perception, endoplasmic reticulum unfolded protein response, ATF6-mediated unfolded protein response, positive regulation of apoptotic process, positive regulation of transcription from RNA polymerase II promoter, positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress,
GOTERM_CC_DIRECT Golgi membrane, nucleus, nuclear envelope, nucleoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, Golgi apparatus, membrane, integral component of endoplasmic reticulum membrane,
GOTERM_MF_DIRECT transcription regulatory region sequence-specific DNA binding, RNA polymerase II regulatory region sequence-specific DNA binding, transcription factor activity, sequence-specific DNA binding, transcription coactivator activity, protein binding, ubiquitin protein ligase binding, cAMP response element binding, identical protein binding, sequence-specific DNA binding, protein heterodimerization activity,
INTERPRO Basic-leucine zipper domain,
KEGG_PATHWAY Protein processing in endoplasmic reticulum, Alzheimer's disease,
OFFICIAL_GENE_SYMBOL ATF6,
OMIM_DISEASE Achromatopsia 7,
PFAM bZIP transcription factor,
PUBMED_ID 10564271, 10866666, 11158310, 11163209, 11256944, 11287625, 11483355, 11779464, 11805088, 11821395, 11909875, 12014989, 12076252, 12097557, 12477932, 12713871, 12782636, 12805554, 12949534, 14699159, 14752510, 14765107, 15063770, 15299016, 15342556, 15489334, 15598891, 15899857, 16196087, 16236796, 16469704, 16505252, 16710414, 17092596, 17101776, 17327457, 17440018, 17442311, 17522056, 17686766, 18022401, 18635891, 18650380, 18840095, 19122331, 19304306, 19420237, 19667116, 19693772, 19722195, 19723703, 19772629, 19816510, 19822759, 19913121, 20102225, 20160352, 20219975, 20301591, 20628086, 20732420, 20800603, 20936779, 21106748, 21131360, 21150130, 21211013, 21329801, 21329806, 21345978, 21355074, 21385877, 21454619, 21521793, 21809331, 21832049, 21841196, 21976666, 21988832, 22013072, 22013210, 22099811, 22102412, 22146569, 22268729, 22354938, 22577136, 22682248, 22872700, 22917505, 22956602, 23011799, 23037953, 23382691, 23661758, 23864652, 23924739, 24043630, 24177270, 24240056, 24269637, 24302549, 24636989, 24664756, 24726443, 25135476, 2516827, 25241909, 25302688, 25444553, 25450523, 25593314, 25609649, 25675914, 25754093, 25976933, 26029869, 26063662, 26186194, 26261584, 26752648, 8889548, 9271374, 9837962,
SMART BRLZ,
UP_KEYWORDS Activator, Coiled coil, Complete proteome, Disease mutation, DNA-binding, Endoplasmic reticulum, Glycoprotein, Membrane, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Signal-anchor, Transcription, Transcription regulation, Transmembrane, Transmembrane helix, Unfolded protein response,
UP_SEQ_FEATURE chain:Cyclic AMP-dependent transcription factor ATF-6 alpha, chain:Processed cyclic AMP-dependent transcription factor ATF-6 alpha, compositionally biased region:Poly-Lys, compositionally biased region:Poly-Pro, compositionally biased region:Poly-Ser, DNA-binding region:Basic motif, domain:Leucine-zipper, glycosylation site:N-linked (GlcNAc...), mutagenesis site, region of interest:Transcription activation, sequence conflict, sequence variant, site:Cleavage; by PS1, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Brain, Cervix carcinoma, Pancreas,
80063 activating transcription factor 7 interacting protein 2(ATF7IP2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000166669,
GAD_DISEASE response to antipsychotic treatment, Risperidone,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT nucleus, nucleolus, cytoplasm,
INTERPRO Fibronectin, type III, Activating transcription factor 7-interacting protein, Activating transcription factor 7-interacting protein 2,
OFFICIAL_GENE_SYMBOL atf7ip2,
PUBMED_ID 12477932, 14702039, 15489334, 15691849, 18029348, 20195266, 8125298,
UP_KEYWORDS Activator, Alternative splicing, Coiled coil, Complete proteome, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Repressor, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Activating transcription factor 7- interacting protein 2, domain:Fibronectin type-III, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Lung, Stomach, Teratocarcinoma, Testis,
54988 acyl-CoA synthetase medium-chain family member 5(ACSM5) Related Genes Homo sapiens
COG_ONTOLOGY Lipid metabolism,
ENSEMBL_GENE_ID ENSG00000183549,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT fatty acid metabolic process, fatty acid biosynthetic process, acyl-CoA metabolic process, metabolic process,
GOTERM_CC_DIRECT mitochondrial matrix,
GOTERM_MF_DIRECT catalytic activity, acyl-CoA ligase activity, fatty-acyl-CoA synthase activity, ATP binding, GTP binding, fatty acid ligase activity, metal ion binding, butyrate-CoA ligase activity,
INTERPRO AMP-dependent synthetase/ligase, AMP-binding, conserved site, Domain of unknown function DUF4009,
KEGG_PATHWAY Butanoate metabolism, Metabolic pathways,
OFFICIAL_GENE_SYMBOL ACSM5,
PFAM AMP-binding enzyme, AMP-binding enzyme C-terminal domain,
PUBMED_ID 11752456, 12477932, 17762044, 20383146, 20877624, 21988832, 24816252,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Complete proteome, Fatty acid metabolism, GTP-binding, Ligase, Lipid metabolism, Magnesium, Metal-binding, Mitochondrion, Nucleotide-binding, Polymorphism, Proteomics identification, Reference proteome, Transit peptide,
UP_SEQ_FEATURE binding site:ATP, chain:Acyl-coenzyme A synthetase ACSM5, mitochondrial, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant, transit peptide:Mitochondrion,
UP_TISSUE Brain, Kidney,
10965 acyl-CoA thioesterase 2(ACOT2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000119673,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Tobacco Use Disorder,
GOTERM_BP_DIRECT very long-chain fatty acid metabolic process, long-chain fatty acid metabolic process, acyl-CoA metabolic process, long-chain fatty-acyl-CoA biosynthetic process,
GOTERM_CC_DIRECT mitochondrion, mitochondrial matrix, extracellular exosome,
GOTERM_MF_DIRECT receptor binding, palmitoyl-CoA hydrolase activity, thiolester hydrolase activity, acyl-CoA hydrolase activity, carboxylic ester hydrolase activity,
INTERPRO Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase, BAAT/Acyl-CoA thioester hydrolase C-terminal, Acyl-CoA thioesterase, long chain,
KEGG_PATHWAY Fatty acid elongation, Biosynthesis of unsaturated fatty acids, Metabolic pathways,
OFFICIAL_GENE_SYMBOL ACOT2,
PFAM Acyl-CoA thioester hydrolase/BAAT N-terminal region, BAAT / Acyl-CoA thioester hydrolase C terminal,
PIR_SUPERFAMILY acyl-CoA thioesterase (hydrolase),
PUBMED_ID 10944470, 12477932, 12665801, 14702039, 15007068, 15489334, 16103133, 16940157, 17353931, 19497300, 20178365, 20379614, 20877624, 23376485, 25281560, 25464930, 26186194, 7596406, 8125298,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Complete proteome, Hydrolase, Mitochondrion, Polymorphism, Proteomics identification, Reference proteome, Serine esterase, Transit peptide,
UP_SEQ_FEATURE active site:Charge relay system, chain:Acyl-coenzyme A thioesterase 2, mitochondrial, helix, modified residue, sequence conflict, sequence variant, short sequence motif:Microbody targeting signal, splice variant, strand, transit peptide:Mitochondrion, turn,
UP_TISSUE Brain, Lung, Placenta, Spleen, Uterus,
23536 adenosine deaminase, tRNA specific 1(ADAT1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000065457,
GAD_DISEASE high-density lipoprotein cholesterol ,
GOTERM_BP_DIRECT RNA processing, tRNA processing,
GOTERM_MF_DIRECT RNA binding, adenosine deaminase activity, tRNA-specific adenosine deaminase activity, metal ion binding,
INTERPRO Adenosine deaminase/editase,
OFFICIAL_GENE_SYMBOL ADAT1,
PFAM Adenosine-deaminase (editase) domain,
PUBMED_ID 10430867, 12477932, 14702039, 19322201, 19844255, 22658674, 25086665,
SMART ADEAMc,
UP_KEYWORDS Alternative splicing, Complete proteome, Hydrolase, Metal-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, tRNA processing, Zinc,
UP_SEQ_FEATURE active site:Proton donor, binding site:Inositol hexakisphosphate, chain:tRNA-specific adenosine deaminase 1, domain:A to I editase, metal ion-binding site:Zinc, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Teratocarcinoma, Uterus,
84658 adhesion G protein-coupled receptor E3(ADGRE3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000131355,
GAD_DISEASE Blood Pressure Determination, Hemoglobins,
GOTERM_BP_DIRECT cell surface receptor signaling pathway, G-protein coupled receptor signaling pathway,
GOTERM_CC_DIRECT extracellular region, plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, calcium ion binding,
INTERPRO EGF-type aspartate/asparagine hydroxylation site, GPS domain, Epidermal growth factor-like domain, GPCR, family 2, secretin-like, GPCR, family 2, EMR1 hormone receptor, EGF-like calcium-binding, Insulin-like growth factor binding protein, N-terminal, GPCR, family 2-like, GPCR, family 2, secretin-like, conserved site, EGF-like calcium-binding, conserved site,
OFFICIAL_GENE_SYMBOL ADGRE3,
PFAM 7 transmembrane receptor (Secretin family), Latrophilin/CL-1-like GPS domain, Calcium-binding EGF domain,
PUBMED_ID 11279179, 12477932, 12975309, 15203201, 17081983, 17108056, 20237496, 20625511, 20827226, 23383108, 25713288,
SMART EGF_CA, EGF, GPS,
UP_KEYWORDS Alternative splicing, Calcium, Cell membrane, Complete proteome, Disulfide bond, EGF-like domain, G-protein coupled receptor, Glycoprotein, Membrane, Polymorphism, Proteomics identification, Receptor, Reference proteome, Repeat, Secreted, Signal, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:EGF-like module-containing mucin-like hormone receptor-like 3, chain:EGF-like module-containing mucin-like hormone receptor-like 3 subunit alpha, chain:EGF-like module-containing mucin-like hormone receptor-like 3 subunit beta, disulfide bond, domain:EGF-like 1, domain:EGF-like 2; calcium-binding, domain:GPS, glycosylation site:N-linked (GlcNAc...), modified residue, sequence variant, signal peptide, site:Cleavage, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Epithelium, PCR rescued clones,
16 alanyl-tRNA synthetase(AARS) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000090861,
GOTERM_BP_DIRECT hair follicle development, tRNA modification, tRNA aminoacylation for protein translation, alanyl-tRNA aminoacylation, regulation of translational fidelity, protein folding, tRNA processing, cerebellar Purkinje cell layer development, endoplasmic reticulum unfolded protein response, response to amino acid, negative regulation of neuron apoptotic process, neuromuscular process controlling balance,
GOTERM_CC_DIRECT cytoplasm, mitochondrion, cytosol, membrane, extracellular exosome,
GOTERM_MF_DIRECT tRNA binding, aminoacyl-tRNA editing activity, nucleic acid binding, alanine-tRNA ligase activity, ATP binding, zinc ion binding, amino acid binding,
INTERPRO Alanine-tRNA ligase, class IIc, Phosphoesterase, DHHA1, Translation elongation/initiation factor/Ribosomal, beta-barrel, Threonyl/alanyl tRNA synthetase, SAD, Alanine-tRNA ligase, class IIc, anti-codon-binding domain, Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain, Alanyl-tRNA synthetase, class IIc, N-terminal, Alanyl-tRNA synthetase, class IIc, core domain, Alanine-tRNA ligase, eukaryota/bacteria,
KEGG_PATHWAY Aminoacyl-tRNA biosynthesis,
OFFICIAL_GENE_SYMBOL AARS,
OMIM_DISEASE Charcot-Marie-Tooth disease, axonal, type 2N, Epileptic encephalopathy, early infantile, 29,
PFAM tRNA synthetases class II (A), DHHA1 domain, Threonyl and Alanyl tRNA synthetase second additional domain,
PUBMED_ID 10508479, 11532948, 11829477, 12477932, 15489334, 16139798, 16263121, 16751776, 17081983, 19738201, 19946888, 20045102, 20301462, 20301532, 20458337, 21319273, 21549344, 22009580, 22573628, 22586326, 22623428, 22658674, 22863883, 22939629, 25422440, 25659154, 25817015, 25904691, 25921289, 26032230, 26344197, 26496610, 2915692, 7654687, 7761427, 8076819, 8125298, 8595897,
SMART SM00863,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Aminoacyl-tRNA synthetase, ATP-binding, Charcot-Marie-Tooth disease, Complete proteome, Cytoplasm, Direct protein sequencing, Disease mutation, Epilepsy, Ligase, Metal-binding, Neurodegeneration, Neuropathy, Nucleotide-binding, Phosphoprotein, Polymorphism, Protein biosynthesis, Proteomics identification, Reference proteome, RNA-binding, tRNA-binding, Ubl conjugation, Zinc,
UP_SEQ_FEATURE chain:Alanyl-tRNA synthetase, cytoplasmic, modified residue, region of interest:Catalytic, sequence conflict, sequence variant,
UP_TISSUE Epithelium, Liver, Osteosarcoma, Placenta, Renal cell carcinoma,
231 aldo-keto reductase family 1 member B(AKR1B1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000085662,
GAD_DISEASE Chronic Kidney Insufficiency|Diabetes mellitus type II|Diabetes Mellitus, Type 2|Renal Insufficiency, Chronic, Chronic renal failure|Kidney Failure, Chronic, Coronary Disease|Diabetes Mellitus, Type 2|Diabetic Nephropathies|, Diabetes Complications|, Diabetes mellitus type II|Diabetes Mellitus, Type 2|Diabetic Retinopathy, Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetic Nephropathies, diabetes, type 1, diabetes, type 2, diabetic glomerulopathy; glomerulopathy, diabetic; kidney failure, Diabetic Retinopathy, Glomerulonephritis, IGA, heart disease, ischemic macroangiopathy, diabetic stroke, Hypospadias, microangiopathy, microvascular complications, nephropathy in other diseases, nephropathy, diabetic, nephropathy, diabetic; retinopathy, diabetic, nerve function, neuropathy, diabetic, retinopathy, diabetic, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT tissue homeostasis, carbohydrate metabolic process, monosaccharide metabolic process, sorbitol biosynthetic process, C21-steroid hormone biosynthetic process, response to stress, response to water deprivation, naphthalene metabolic process, stress-activated protein kinase signaling cascade, norepinephrine metabolic process, daunorubicin metabolic process, doxorubicin metabolic process, fructose biosynthetic process, positive regulation of JAK-STAT cascade, positive regulation of smooth muscle cell proliferation, oxidation-reduction process, maternal process involved in female pregnancy, cellular response to hydrogen peroxide, inner medullary collecting duct development, response to thyroid hormone, cellular response to methylglyoxal, cellular response to peptide,
GOTERM_CC_DIRECT extracellular space, nucleoplasm, cytoplasm, cytosol, cell projection cytoplasm, paranodal junction, mast cell granule, Schmidt-Lanterman incisure, perinuclear region of cytoplasm, extracellular exosome, Schwann cell microvillus,
GOTERM_MF_DIRECT alditol:NADP+ 1-oxidoreductase activity, aldo-keto reductase (NADP) activity, electron carrier activity, oxidoreductase activity, glyceraldehyde oxidoreductase activity,
INTERPRO Aldo/keto reductase, Aldo/keto reductase, conserved site, Aldo/keto reductase subgroup, NADP-dependent oxidoreductase domain,
KEGG_PATHWAY Pentose and glucuronate interconversions, Fructose and mannose metabolism, Galactose metabolism, Glycerolipid metabolism, Metabolic pathways,
OFFICIAL_GENE_SYMBOL AKR1B1,
PFAM Aldo/keto reductase family,
PIR_SUPERFAMILY aldo-keto reductase,
PUBMED_ID 10075698, 10510318, 11095596, 11182213, 11306081, 11444797, 11449315, 11499839, 11796181, 11842041, 11874426, 11958479, 12446366, 12477932, 12486717, 12604221, 12660865, 12690205, 1420136, 1447221, 14582038, 14662023, 14694017, 14694018, 14996095, 15162486, 15181092, 15231748, 15251463, 15270790, 15272156, 15277434, 15284219, 15284221, 15489334, 15504980, 15569136, 15583024, 15637423, 15745835, 15862967, 15973199, 16021519, 16174723, 16176189, 1621098, 16344560, 16545977, 16620264, 16701918, 16911628, 16928730, 16936152, 17018629, 17139089, 17270157, 17353931, 17418233, 17563730, 17851230, 17968325, 18029348, 18385795, 18434430, 18451330, 18495158, 18716049, 1901827, 1901857, 19056867, 19273550, 19420105, 19422879, 19760097, 19821053, 19847669, 19850041, 19913121, 20093363, 20150532, 20353610, 20354121, 20424224, 20458337, 20628086, 20837989, 20943776, 21067489, 21067572, 21084309, 2111143, 2112546, 21182935, 21294693, 21306562, 21329682, 21329684, 21409599, 21420193, 21637955, 22360420, 22561432, 22649481, 22658411, 22844269, 22939629, 22978663, 23029549, 23146748, 23376485, 23517423, 23533145, 23732517, 23747692, 24100137, 24104479, 24186862, 24337577, 24360973, 24474649, 24567419, 24663124, 24698671, 2492527, 2498333, 2504709, 2510130, 25123395, 25281560, 25446850, 25528584, 25722213, 25885804, 25921289, 26186194, 26344197, 6417042, 7789640, 8234324, 8245005, 8268209, 8281941, 8343525, 8347133, 8405190, 8435445, 8615700, 8645003, 8877273, 9195951, 9405046, 9565553,
UP_KEYWORDS 3D-structure, Acetylation, Complete proteome, Cytoplasm, Direct protein sequencing, NADP, Oxidoreductase, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE active site:Proton donor, binding site:Substrate, chain:Aldose reductase, helix, modified residue, mutagenesis site, nucleotide phosphate-binding region:NADP, sequence conflict, sequence variant, site:Lowers pKa of active site Tyr, strand, turn,
UP_TISSUE Brain, Cajal-Retzius cell, Eye, Fetus, Lymphoma, Muscle, Placenta, Urinary bladder,
174 alpha fetoprotein(AFP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000081051,
GAD_DISEASE alpha-fetoprotein, null,
GOTERM_BP_DIRECT ovulation from ovarian follicle, transport, progesterone metabolic process, SMAD protein signal transduction,
GOTERM_CC_DIRECT extracellular space, cytoplasm,
GOTERM_MF_DIRECT protein binding, metal ion binding,
INTERPRO ALB/AFP/VDB, Serum albumin, N-terminal, Serum albumin, conserved site, Serum albumin-like, Serum albumin/Alpha-fetoprotein,
KEGG_PATHWAY Hippo signaling pathway,
OFFICIAL_GENE_SYMBOL AFP,
OMIM_DISEASE Alpha-fetoprotein deficiency, Hereditary persistence of alpha-fetoprotein,
PFAM Serum albumin family,
PIR_SUPERFAMILY serum albumin,
PUBMED_ID 11764100, 11788893, 11861398, 12006569, 12167706, 12176010, 12361680, 12477932, 12499776, 12503217, 12615827, 12804197, 12835590, 1371512, 14622304, 14714299, 15001643, 15028291, 15040024, 15265907, 15280901, 15305374, 15489334, 15849812, 15906357, 15993394, 16169070, 16203738, 16627685, 16869888, 16882993, 16892178, 1703124, 1709810, 17175353, 17175354, 17188819, 17197899, 17237442, 17275497, 17433605, 17465484, 17535089, 17626741, 17852813, 18184471, 18194454, 18316609, 18354237, 18407604, 18422961, 18466288, 18479159, 18485897, 18551609, 18563566, 18577995, 18609108, 18657899, 18802946, 19003875, 19038010, 19093203, 19160651, 19184104, 19197197, 19206006, 19225928, 19241193, 19343004, 19362088, 19383238, 19426602, 19437037, 19457604, 19494365, 19501957, 19574883, 19593583, 19615732, 19785658, 19968979, 20070666, 20101856, 20149523, 20363333, 20414942, 20495646, 20532728, 20571936, 20740583, 20796153, 21059290, 21083609, 21083802, 21155886, 21169258, 21170957, 21235824, 21301972, 21312197, 21365646, 21411977, 21438004, 21592114, 21745284, 21793906, 21952001, 21965270, 21988832, 22116493, 22147961, 22150277, 22152641, 22233759, 22252180, 22294840, 22362471, 22366528, 22391642, 22469729, 22471500, 22472323, 22521346, 22524824, 22535689, 22559879, 22561245, 22672818, 22709874, 22935208, 23020232, 23038230, 23169148, 23211536, 23282286, 23300138, 23322323, 23342486, 23395581, 23421992, 23535732, 23548745, 23555170, 23558072, 23615710, 23622526, 23743582, 23763371, 23886200, 23895043, 23980880, 24065238, 24106406, 24123097, 2414772, 24190142, 24226839, 24236824, 24299318, 24354994, 2436661, 24425104, 2445387, 24455683, 24472068, 24530300, 24587407, 24589829, 24591342, 24614696, 24634927, 24700365, 2474300, 24798303, 24841158, 24922551, 25041030, 25064545, 25128299, 25167201, 25206293, 25209179, 25355916, 25456363, 25577247, 25597408, 25648018, 25652109, 25731670, 25738614, 25767942, 25773802, 2580830, 25846403, 25846475, 25852278, 25914481, 25916058, 25945007, 25962419, 25966084, 25987792, 26019036, 26078578, 26078940, 26125916, 26162540, 26176068, 26176088, 26252472, 26349668, 26373980, 26436360, 26441340, 26519622, 26588210, 26681337, 26756996, 26808496, 26887339, 26927385, 26986465, 27070780, 27468575, 4138095, 6085063, 6187626, 6192439, 6192711, 6193792, 70228, 71198, 7519015, 7524678, 7532927, 7684942, 80265, 89900, 9455924, 9891062,
SMART ALBUMIN,
UP_KEYWORDS 3D-structure, Complete proteome, Copper, Direct protein sequencing, Disulfide bond, Glycoprotein, Metal-binding, Nickel, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Sulfation,
UP_SEQ_FEATURE chain:Alpha-fetoprotein, disulfide bond, domain:Albumin 1, domain:Albumin 2, domain:Albumin 3, glycosylation site:N-linked (GlcNAc...), metal ion-binding site:Copper or nickel, sequence variant, signal peptide,
UP_TISSUE Brain, Cajal-Retzius cell, Heart, Lung,
80216 alpha kinase 1(ALPK1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000073331,
GAD_DISEASE Alcoholism, Inflammatory Bowel Diseases, Leukopenia, Obesity,
GOTERM_BP_DIRECT protein phosphorylation,
GOTERM_CC_DIRECT cytoplasm,
GOTERM_MF_DIRECT protein serine/threonine kinase activity, ATP binding, kinase activity,
INTERPRO MHCK/EF2 kinase, Protein kinase-like domain,
OFFICIAL_GENE_SYMBOL alpk1,
PFAM Alpha-kinase family,
PUBMED_ID 10021370, 10737800, 10819331, 12168954, 12477932, 14702039, 15221005, 15489334, 15883161, 16344560, 20332099, 21208416, 21799462, 21822924, 22020285, 22484627, 22623531, 22939624, 23539754, 23569188, 25326865, 26186194, 26673895,
SMART Alpha_kinase,
UP_KEYWORDS Alternative splicing, Complete proteome, Kinase, Polymorphism, Proteomics identification, Reference proteome, Serine/threonine-protein kinase, Transferase,
UP_SEQ_FEATURE chain:Alpha-protein kinase 1, compositionally biased region:Poly-Ala, compositionally biased region:Ser-rich, domain:Alpha-type protein kinase, sequence conflict, sequence variant,
UP_TISSUE Brain, Human small intestine, Placenta, Spleen,
9546 amyloid beta precursor protein binding family A member 3(APBA3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000011132,
GAD_DISEASE Inflammation, Narcolepsy,
GOTERM_BP_DIRECT in utero embryonic development, chemical synaptic transmission, regulation of gene expression, protein transport, negative regulation of catalytic activity,
GOTERM_CC_DIRECT perinuclear region of cytoplasm,
GOTERM_MF_DIRECT beta-amyloid binding, enzyme inhibitor activity, protein binding, enzyme binding,
INTERPRO PDZ domain, Phosphotyrosine interaction domain, Pleckstrin homology-like domain,
OFFICIAL_GENE_SYMBOL APBA3,
PFAM PDZ domain (Also known as DHR or GLGF), Phosphotyrosine interaction domain (PTB/PID),
PUBMED_ID 10049767, 10574372, 11440799, 11831025, 12196555, 12477932, 14990567, 15057824, 15489334, 15494376, 16273093, 17959829, 18544638, 19726677, 20016085, 20677014, 21178287, 21903422, 23965993, 24742670, 24778252, 24867948, 26186194, 26496610, 26673895, 8889548, 9860131,
SMART PDZ, PTB,
UP_KEYWORDS 3D-structure, Acetylation, Complete proteome, Cytoplasm, Phosphoprotein, Polymorphism, Protein transport, Reference proteome, Repeat, Transport,
UP_SEQ_FEATURE chain:Amyloid beta A4 precursor protein-binding family A member 3, compositionally biased region:Poly-Ser, domain:PDZ 1, domain:PDZ 2, domain:PID, helix, modified residue, sequence conflict, sequence variant, strand, turn,
UP_TISSUE Brain, Lung, Spleen,
22852 ankyrin repeat domain 26(ANKRD26) Related Genes Homo sapiens
COG_ONTOLOGY DNA replication, recombination, and repair,
ENSEMBL_GENE_ID ENSG00000107890,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_CC_DIRECT centrosome,
INTERPRO Ankyrin repeat, Ankyrin repeat-containing domain, Protein of unknown function DUF3496,
OFFICIAL_GENE_SYMBOL ANKRD26,
OMIM_DISEASE Thrombocytopenia 2,
PFAM Ankyrin repeat, Domain of unknown function (DUF3496), Ankyrin repeats (3 copies),
PUBMED_ID 10470851, 12477932, 14702039, 15164054, 15203218, 15489334, 16344560, 17081983, 20877624, 21211618, 21282530, 21399614, 21467542, 22990118, 23223974, 23869080, 24030261, 24255178, 24430186, 24628296, 25281560, 25902755, 26175287, 26186194, 26638075,
SMART ANK,
UP_KEYWORDS Alternative splicing, ANK repeat, Coiled coil, Complete proteome, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Ankyrin repeat domain-containing protein 26, compositionally biased region:Poly-Asp, compositionally biased region:Poly-Gly, modified residue, repeat:ANK 1, repeat:ANK 2, repeat:ANK 3, repeat:ANK 4, repeat:ANK 5, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Embryo, Epithelium, Lymph, Melanoma, Testis, Trachea,
374860 ankyrin repeat domain 30B(ANKRD30B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000180777,
INTERPRO Ankyrin repeat, Ankyrin repeat-containing domain,
OFFICIAL_GENE_SYMBOL ANKRD30B,
PFAM Ankyrin repeats (3 copies),
PUBMED_ID 11280766, 12477932,
SMART ANK,
UP_KEYWORDS Alternative splicing, ANK repeat, Coiled coil, Complete proteome, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Ankyrin repeat domain-containing protein 30B, repeat:ANK 1, repeat:ANK 2, repeat:ANK 3, repeat:ANK 4, repeat:ANK 5, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Testis,
57730 ankyrin repeat domain 36B(ANKRD36B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000196912,
GOTERM_MF_DIRECT protein binding,
INTERPRO Ankyrin repeat, Ankyrin repeat-containing domain,
OFFICIAL_GENE_SYMBOL ANKRD36B,
PFAM Ankyrin repeats (3 copies), Ankyrin repeat,
PUBMED_ID 10997877, 12107410, 12477932, 14702039, 15489334, 16344560, 25416956, 26460568, 26496610,
SMART ANK,
UP_KEYWORDS Alternative splicing, ANK repeat, Coiled coil, Complete proteome, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:UPF0634 protein B, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Embryo, Prostate, Uterus,
200316 apolipoprotein B mRNA editing enzyme catalytic subunit 3F(APOBEC3F) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000128394,
GOTERM_BP_DIRECT positive regulation of defense response to virus by host, cytidine deamination, negative regulation of transposition, base conversion or substitution editing, negative regulation of viral genome replication, innate immune response, negative regulation of single stranded viral RNA replication via double stranded DNA intermediate, negative regulation of viral process, defense response to virus, DNA cytosine deamination, DNA demethylation,
GOTERM_CC_DIRECT cytoplasmic mRNA processing body, cytoplasm, intracellular ribonucleoprotein complex, apolipoprotein B mRNA editing enzyme complex,
GOTERM_MF_DIRECT RNA binding, cytidine deaminase activity, protein binding, zinc ion binding, hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines, poly(A) RNA binding,
INTERPRO CMP/dCMP deaminase, zinc-binding, APOBEC-like, N-terminal, APOBEC/CMP deaminase, zinc-binding, Cytidine deaminase-like,
OFFICIAL_GENE_SYMBOL APOBEC3F,
PFAM APOBEC-like N-terminal domain,
PUBMED_ID 10591208, 11863358, 12167863, 12477932, 12683974, 12808465, 12808466, 12809610, 12859895, 12970355, 14527406, 14528300, 14528301, 14557052, 14557625, 14565218, 14702039, 15031497, 15054139, 15141007, 15152192, 15296757, 15461802, 15489334, 15647250, 16014920, 16344560, 16378963, 16460778, 16501124, 16527742, 16641889, 16648136, 16699599, 16767679, 16940537, 17020885, 17038330, 17067930, 17121840, 17142455, 17145955, 17303427, 17428847, 17459442, 17522216, 17609216, 17977970, 18067920, 18262674, 18304004, 18367521, 18448538, 18541215, 18577210, 18603011, 18604271, 18619467, 18806783, 18846074, 18976920, 19008196, 19036809, 19038776, 19088851, 19109396, 19149995, 19169351, 19344514, 19487726, 19535447, 19535450, 19561087, 19587057, 19649317, 19669862, 19826902, 19837465, 19939923, 19944180, 20012521, 20062055, 20096141, 20153011, 20174454, 20219927, 20299747, 20335268, 20538015, 20592068, 20592083, 20610708, 20624919, 20686027, 20702622, 20844042, 20943965, 20971849, 21044950, 21279453, 21396348, 21496894, 21573951, 21741003, 21835787, 21897871, 21994560, 21994586, 21994608, 22013041, 22203821, 22205746, 22286874, 22315404, 22379088, 22451677, 22647704, 22681889, 22695298, 22720156, 22807680, 22855686, 22912627, 22915799, 23001005, 23028129, 23043100, 23043103, 23080486, 23097438, 23202519, 23318957, 23330719, 23430691, 23536679, 23685212, 23787464, 23825473, 23926332, 23971925, 24139399, 24185281, 24189052, 24227842, 24248339, 24352440, 24390320, 24418540, 24422669, 24457600, 24503066, 24623435, 24651717, 24657093, 24722422, 24810617, 24942576, 25038404, 25124760, 25142588, 25165112, 25206352, 25330146, 25352838, 25408426, 25424878, 25461536, 25489169, 25505075, 25590131, 25724652, 25807049, 25827531, 25985400, 26016442, 26048885, 26055363, 26186194, 26537685, 26942578, 8570611, 8889548,
UP_KEYWORDS 3D-structure, Alternative splicing, Antiviral defense, Complete proteome, Cytoplasm, Hydrolase, Immunity, Innate immunity, Lipoprotein, Metal-binding, Polymorphism, Reference proteome, Repeat, Zinc,
UP_SEQ_FEATURE active site:Proton donor, chain:DNA dC->dU-editing enzyme APOBEC-3F, chain:DNA dC->dU-editing enzyme APOBEC-3G, helix, metal ion-binding site:Zinc, mutagenesis site, sequence conflict, sequence variant, splice variant, strand, turn,
UP_TISSUE Hematopoietic stem cell, Kidney, Pancreas, Skin, Spleen, Synovium, T-cell lymphoma, Teratocarcinoma, Uterus,
445 argininosuccinate synthase 1(ASS1) Related Genes Homo sapiens
COG_ONTOLOGY Amino acid transport and metabolism,
ENSEMBL_GENE_ID ENSG00000130707,
GAD_DISEASE Cleft Lip|Cleft Palate, Lipoproteins, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT urea cycle, citrulline metabolic process, argininosuccinate metabolic process, kidney development, liver development, arginine biosynthetic process, aspartate metabolic process, acute-phase response, midgut development, aging, response to nutrient, response to zinc ion, response to mycotoxin, response to estradiol, response to drug, positive regulation of nitric oxide biosynthetic process, response to growth hormone, diaphragm development, response to fatty acid, cellular response to lipopolysaccharide, cellular response to amino acid stimulus, cellular response to ammonium ion, cellular response to cAMP, cellular response to interferon-gamma, cellular response to tumor necrosis factor, cellular response to glucagon stimulus, cellular response to oleic acid, cellular response to amine stimulus, cellular response to laminar fluid shear stress, cellular response to dexamethasone stimulus, negative regulation of leukocyte cell-cell adhesion,
GOTERM_CC_DIRECT nucleus, cytoplasm, mitochondrial outer membrane, lysosome, endoplasmic reticulum, cytosol, perikaryon, extracellular exosome, cell body fiber,
GOTERM_MF_DIRECT argininosuccinate synthase activity, protein binding, ATP binding, toxic substance binding, amino acid binding, identical protein binding, poly(A) RNA binding,
INTERPRO Argininosuccinate synthase, Rossmann-like alpha/beta/alpha sandwich fold, Argininosuccinate synthase, conserved site, Argininosuccinate synthase, type 1 subfamily, Argininosuccinate synthetase, catalytic/multimerisation domain body,
KEGG_PATHWAY Arginine biosynthesis, Alanine, aspartate and glutamate metabolism, Metabolic pathways, Biosynthesis of antibiotics, Biosynthesis of amino acids,
OFFICIAL_GENE_SYMBOL ASS1,
OMIM_DISEASE Citrullinemia,
PFAM Arginosuccinate synthase,
PUBMED_ID 11464474, 11606680, 11708871, 11941481, 12477932, 12620389, 12815590, 1312326, 1372742, 14570901, 14702039, 15192091, 15489334, 16124451, 16169070, 16189514, 16380201, 16703398, 17096330, 17314511, 17354225, 18263583, 18840401, 19000307, 19006241, 19056867, 19358837, 19409979, 1943692, 19533750, 19913121, 19934275, 20159990, 20301396, 20301631, 20360068, 20628086, 20706999, 20739017, 21044950, 21106532, 21481813, 21832049, 21988832, 22268729, 22430140, 22658674, 22863883, 22939629, 23022198, 23099195, 23339388, 23376485, 23533145, 23549872, 2358466, 23897555, 24192130, 24255178, 24297925, 24337577, 24508627, 24692592, 24927999, 25179242, 25333458, 25416956, 25548129, 26186194, 26344197, 26496610, 26560030, 26638075, 26871637, 26895070, 26982031, 2788888, 3027451, 3513483, 6095035, 6194510, 6321498, 7557970, 7977368, 852520, 8792870, 8895530, 891260, 9150948,
UP_KEYWORDS 3D-structure, Amino-acid biosynthesis, Arginine biosynthesis, ATP-binding, Complete proteome, Direct protein sequencing, Disease mutation, Ligase, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Urea cycle,
UP_SEQ_FEATURE binding site:Aspartate, binding site:ATP; via amide nitrogen and carbonyl oxygen, binding site:Citrulline, chain:Argininosuccinate synthase, helix, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, strand, turn,
UP_TISSUE Colon carcinoma, Kidney, Muscle, Small intestine,
124872 beta-1,4-N-acetyl-galactosaminyltransferase 2(B4GALNT2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000167080,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT UDP-N-acetylglucosamine metabolic process, protein glycosylation, UDP-N-acetylgalactosamine metabolic process, negative regulation of cell-cell adhesion, lipid glycosylation,
GOTERM_CC_DIRECT integral component of membrane, integral component of Golgi membrane,
GOTERM_MF_DIRECT acetylgalactosaminyltransferase activity,
INTERPRO Glycosyl transferase, family 2, Ganglioside GM2 synthase,
OFFICIAL_GENE_SYMBOL B4GALNT2,
PFAM Glycosyl transferase family 2,
PIR_SUPERFAMILY (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase,
PUBMED_ID 11886838, 12477932, 12678917, 14688233, 15489334, 16024623, 17965433, 18485915, 20379614, 23535732, 24145553, 2425965, 24953560, 8782649,
UP_KEYWORDS Alternative splicing, Complete proteome, Glycosyltransferase, Golgi apparatus, Membrane, Polymorphism, Reference proteome, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Beta-1,4 N- acetylgalactosaminyltransferase 2, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Gastric mucosa, Testis,
6046 bromodomain containing 2(BRD2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204256,
GAD_DISEASE Abortion, Spontaneous, Alzheimer's disease , Asthma, Azoospermia, Heart Rate, Juvenile Myoclonic Epilepsy, Lupus Erythematosus, Systemic, null, photoparoxysmal response, Triglycerides,
GOTERM_BP_DIRECT nucleosome assembly, transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, spermatogenesis, covalent chromatin modification,
GOTERM_CC_DIRECT nucleus, cytoplasm,
GOTERM_MF_DIRECT chromatin binding, protein binding, lysine-acetylated histone binding,
INTERPRO Bromodomain, Bromodomain, conserved site, NET domain,
OFFICIAL_GENE_SYMBOL BRD2,
PFAM Bromodomain,
PUBMED_ID 10934046, 10965846, 11502199, 11983150, 12145330, 12366783, 12477932, 12600283, 12830434, 1350857, 1352711, 14563639, 14574404, 14702039, 14731392, 15146197, 15302935, 15342556, 15489334, 15548137, 15949438, 16344560, 16512664, 16516380, 1663500, 16786191, 16940503, 17081983, 17111193, 17148447, 17166848, 17848202, 17999746, 18406326, 19204726, 19322201, 19454010, 19766566, 19851445, 19953286, 20036832, 20048151, 20467437, 20587610, 20709061, 20811636, 21555454, 21608014, 22035730, 22766109, 23115324, 23255218, 23455922, 23756480, 24048450, 24049186, 24146614, 24229708, 24711643, 24733848, 25049379, 25281560, 26186194, 26324948, 26344197, 26496610, 26586120, 8595877, 8781126, 9373153, 9693039,
SMART BROMO,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Bromodomain, Chromatin regulator, Coiled coil, Complete proteome, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Bromodomain-containing protein 2, compositionally biased region:Arg/Lys-rich (highly basic), compositionally biased region:Glu/Ser-rich, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Lys, compositionally biased region:Poly-Pro, compositionally biased region:Poly-Ser, compositionally biased region:Ser-rich, domain:Bromo 1, domain:Bromo 2, domain:ET, helix, modified residue, mutagenesis site, sequence variant, short sequence motif:Nuclear localization signal, splice variant, turn,
UP_TISSUE Bone marrow, Epithelium, PNS, T-cell, Testis,
79908 butyrophilin like 8(BTNL8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000113303,
GOTERM_BP_DIRECT adaptive immune response,
GOTERM_CC_DIRECT integral component of membrane,
GOTERM_MF_DIRECT protein binding,
INTERPRO B30.2/SPRY domain, Immunoglobulin subtype, SPla/RYanodine receptor SPRY, Butyrophylin-like, SPRY-associated, Immunoglobulin-like domain, Immunoglobulin V-set, Concanavalin A-like lectin/glucanase, subgroup, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL btnl8,
PFAM SPRY domain, Immunoglobulin V-set domain, SPRY-associated domain,
PUBMED_ID 12477932, 12975309, 14702039, 15340161, 16344560, 21982860, 24036152, 26186194, 8125298,
SMART IG, SPRY, PRY,
UP_KEYWORDS Adaptive immunity, Alternative splicing, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, Immunity, Immunoglobulin domain, Membrane, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Butyrophilin-like protein 8, disulfide bond, domain:B30.2/SPRY, domain:Ig-like V-type 1, domain:Ig-like V-type 2, glycosylation site:N-linked (GlcNAc...), sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Colon, PCR rescued clones,
11120 butyrophilin subfamily 2 member A1(BTN2A1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000112763,
GAD_DISEASE Lupus Erythematosus, Systemic,
GOTERM_BP_DIRECT lipid metabolic process,
GOTERM_CC_DIRECT integral component of plasma membrane, extracellular exosome,
INTERPRO B30.2/SPRY domain, Immunoglobulin subtype, SPla/RYanodine receptor SPRY, Butyrophylin-like, SPRY-associated, Immunoglobulin-like domain, Immunoglobulin V-set, Concanavalin A-like lectin/glucanase, subgroup, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL btn2a1,
PFAM SPRY domain, Immunoglobulin V-set domain, SPRY-associated domain,
PUBMED_ID 11170752, 12477932, 14574404, 14702039, 16344560, 17207965, 17785817, 21211798, 21347509, 21468600, 21525964, 21557786, 21672009, 21784758, 22576629, 23376485, 24452779, 26186194, 9149941, 9382921,
SMART IGv, IG, SPRY, PRY,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Membrane, Polymorphism, Proteomics identification, Reference proteome, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Butyrophilin subfamily 2 member A1, disulfide bond, domain:B30.2/SPRY, domain:Ig-like V-type, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain, Colon endothelium, Lymph,
8912 calcium voltage-gated channel subunit alpha1 H(CACNA1H) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000196557,
GAD_DISEASE Alcoholism, atherosclerosis, autism, childhood absence epilepsy., epilepsy, Epilepsy, Generalized, hypertension,
GOTERM_BP_DIRECT transport, muscle contraction, muscle organ development, myoblast fusion, regulation of heart contraction, aldosterone biosynthetic process, cellular response to hormone stimulus, cortisol biosynthetic process, regulation of ion transmembrane transport, cellular response to potassium ion, regulation of membrane potential, calcium ion import, calcium ion transmembrane transport, membrane depolarization during action potential, positive regulation of acrosome reaction,
GOTERM_CC_DIRECT voltage-gated calcium channel complex, integral component of membrane,
GOTERM_MF_DIRECT low voltage-gated calcium channel activity, metal ion binding, scaffold protein binding,
INTERPRO Voltage-dependent calcium channel, T-type, alpha-1 subunit, Ion transport domain, Voltage-dependent potassium channel, four helix bundle domain,
KEGG_PATHWAY MAPK signaling pathway, Calcium signaling pathway, Circadian entrainment, Aldosterone synthesis and secretion,
OFFICIAL_GENE_SYMBOL CACNA1H,
OMIM_DISEASE Epilepsy, childhood absence, susceptibility to, 6, Epilepsy, idiopathic generalized, susceptibility to, 6,
PFAM Ion transport protein,
PUBMED_ID 10414291, 10861024, 11157797, 11751928, 11799114, 11927664, 12808460, 12853961, 12891677, 14529577, 14602827, 14631046, 14729682, 15498803, 15616553, 15833171, 15852375, 16133267, 16301824, 16303743, 16377633, 16382099, 16443692, 16475676, 16504478, 16565161, 16754686, 16905256, 16973746, 17081983, 17156077, 17215393, 17696120, 18218623, 18230611, 18309285, 18591418, 18708747, 19131331, 19144837, 19336002, 19342457, 19609347, 19641113, 19903827, 19948975, 20147652, 20201926, 20394732, 20699644, 21059758, 21084288, 21099341, 21438841, 21788606, 22130660, 22469755, 22564432, 22572848, 22574369, 23111027, 23488970, 23503728, 23602568, 23626738, 23669360, 23671274, 23849427, 23903007, 23970551, 24277868, 24508802, 25889575, 25907736, 25931121, 26216687, 26220996, 26460568, 26483470, 8619474, 9110174, 9670923, 9930755,
UP_KEYWORDS Alternative splicing, Calcium, Calcium channel, Calcium transport, Coiled coil, Complete proteome, Disease mutation, Epilepsy, Glycoprotein, Ion channel, Ion transport, Membrane, Metal-binding, Polymorphism, Reference proteome, Repeat, Transmembrane, Transmembrane helix, Transport, Voltage-gated channel, Zinc,
UP_SEQ_FEATURE chain:Voltage-dependent T-type calcium channel subunit alpha-1H, compositionally biased region:Poly-Arg, compositionally biased region:Poly-His, compositionally biased region:Poly-Ser, glycosylation site:N-linked (GlcNAc...), modified residue, repeat:I, repeat:II, repeat:III, repeat:IV, sequence conflict, sequence variant, site:Calcium ion selectivity and permeability, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Epithelium, Heart, Testis, Thyroid carcinoma,
93661 capping actin protein of muscle Z-line alpha subunit 3(CAPZA3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000177938,
GAD_DISEASE Electrocardiography, Heart Failure, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT spermatid development, barbed-end actin filament capping,
GOTERM_CC_DIRECT acrosomal vesicle, nucleus, F-actin capping protein complex, membrane, cortical cytoskeleton,
GOTERM_MF_DIRECT actin binding,
INTERPRO WASH complex, F-actin capping protein, alpha subunit, F-actin capping protein, alpha subunit, conserved site,
KEGG_PATHWAY Endocytosis,
OFFICIAL_GENE_SYMBOL CAPZA3,
PFAM F-actin capping protein alpha subunit,
PUBMED_ID 10524250, 12029070, 12477932, 14702039, 15489334, 19913121, 20628086, 21630459, 23903073, 7957958,
UP_KEYWORDS Actin capping, Actin-binding, Complete proteome, Phosphoprotein, Reference proteome,
UP_SEQ_FEATURE chain:F-actin-capping protein subunit alpha-3, sequence conflict,
UP_TISSUE Testis,
9435 carbohydrate sulfotransferase 2(CHST2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000175040,
GAD_DISEASE Chronic renal failure|Kidney Failure, Chronic, drug-related genes , hearing loss, Marijuana Abuse|Psychoses, Substance-Induced, Narcolepsy, Nonalcoholic Fatty Liver Disease, Triglycerides,
GOTERM_BP_DIRECT carbohydrate metabolic process, N-acetylglucosamine metabolic process, sulfur compound metabolic process, inflammatory response, multicellular organism development, keratan sulfate biosynthetic process,
GOTERM_CC_DIRECT Golgi membrane, trans-Golgi network, integral component of membrane, intrinsic component of Golgi membrane,
GOTERM_MF_DIRECT N-acetylglucosamine 6-O-sulfotransferase activity, sulfotransferase activity,
INTERPRO Sulfotransferase domain, Carbohydrate sulfotransferase, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Glycosaminoglycan biosynthesis - keratan sulfate,
OFFICIAL_GENE_SYMBOL CHST2,
PFAM Sulfotransferase domain,
PIR_SUPERFAMILY carbohydrate sulfotransferase,
PUBMED_ID 10049591, 10528213, 11042394, 11056388, 11310842, 11726653, 12477932, 12501187, 12855678, 1433500, 14702039, 15220337, 15489334, 15632306, 16897186, 19343046, 19571171, 19898482, 20677014, 21041608, 24799377, 8419650, 9712885, 9722682,
UP_KEYWORDS Alternative initiation, Carbohydrate metabolism, Complete proteome, Disulfide bond, Glycoprotein, Golgi apparatus, Inflammatory response, Membrane, Reference proteome, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Carbohydrate sulfotransferase 2, glycosylation site:N-linked (GlcNAc...), mutagenesis site, nucleotide phosphate-binding region:PAPS, sequence conflict, splice variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Brain, Placenta, Umbilical vein endothelial cell,
117155 cation channel sperm associated 2(CATSPER2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000166762,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT multicellular organism development, spermatogenesis, cell differentiation, sperm motility, response to progesterone, regulation of ion transmembrane transport, sperm-egg recognition, calcium ion transmembrane transport, membrane depolarization during action potential,
GOTERM_CC_DIRECT plasma membrane, motile cilium, CatSper complex,
GOTERM_MF_DIRECT calcium activated cation channel activity, voltage-gated calcium channel activity, protein binding,
INTERPRO Ion transport domain, Voltage-dependent potassium channel, four helix bundle domain,
OFFICIAL_GENE_SYMBOL CATSPER2,
PFAM Ion transport protein,
PUBMED_ID 11595929, 11675491, 12477932, 14702039, 16382101, 16740636, 17207965, 17567994, 20301780, 20379614, 23519396,
UP_KEYWORDS Alternative splicing, Calcium, Calcium channel, Calcium transport, Cell membrane, Cell projection, Cilium, Complete proteome, Developmental protein, Differentiation, Flagellum, Ion channel, Ion transport, Membrane, Polymorphism, Reference proteome, Spermatogenesis, Transmembrane, Transmembrane helix, Transport, Voltage-gated channel,
UP_SEQ_FEATURE chain:Cation channel sperm-associated protein 2, compositionally biased region:Ser-rich, sequence conflict, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, topological domain:Pore forming, transmembrane region,
UP_TISSUE Brain, Testis,
10669 cell growth regulator with EF-hand domain 1(CGREF1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000138028,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT response to stress, cell cycle arrest, cell adhesion, negative regulation of cell proliferation,
GOTERM_CC_DIRECT extracellular region,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO EF-hand domain, EF-hand-like domain, EF-Hand 1, calcium-binding site,
OFFICIAL_GENE_SYMBOL CGREF1,
PFAM EF-hand domain pair,
PUBMED_ID 12477932, 16341674, 16344560, 18854154, 19913121, 20628086, 24483146, 26022276, 8889548, 8968090,
UP_KEYWORDS Alternative splicing, Calcium, Cell adhesion, Cell cycle, Complete proteome, Growth arrest, Metal-binding, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE calcium-binding region:1, calcium-binding region:2, chain:Cell growth regulator with EF hand domain protein 1, domain:EF-hand 1, domain:EF-hand 2, sequence conflict, sequence variant, signal peptide,
UP_TISSUE Brain, Fetal brain, Testis, Thalamus,
10694 chaperonin containing TCP1 subunit 8(CCT8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000156261,
GOTERM_BP_DIRECT protein folding, binding of sperm to zona pellucida, positive regulation of telomere maintenance via telomerase, pore complex assembly, protein stabilization, cell-cell adhesion, toxin transport, positive regulation of establishment of protein localization to telomere, positive regulation of protein localization to Cajal body, positive regulation of telomerase RNA localization to Cajal body,
GOTERM_CC_DIRECT zona pellucida receptor complex, nucleoplasm, cytoplasm, centrosome, cytosol, chaperonin-containing T-complex, microtubule, cell-cell adherens junction, cilium, cell body, intermediate filament cytoskeleton, extracellular exosome,
GOTERM_MF_DIRECT protein binding, ATP binding, ATPase activity, coupled, unfolded protein binding, cadherin binding involved in cell-cell adhesion,
INTERPRO Chaperonin TCP-1, conserved site, Chaperonin Cpn60/TCP-1, T-complex protein 1, theta subunit, Chaperone tailless complex polypeptide 1 (TCP-1), GroEL-like apical domain, TCP-1-like chaperonin intermediate domain, GroEL-like equatorial domain,
OFFICIAL_GENE_SYMBOL CCT8,
PFAM TCP-1/cpn60 chaperonin family,
PUBMED_ID 10508479, 10748209, 10830953, 11532003, 12477932, 14532270, 15342556, 15489334, 15592455, 16021519, 16085932, 16344560, 16497536, 16780588, 16916647, 17314511, 17500595, 17550899, 17643375, 18029348, 18775504, 18782753, 19056867, 19135240, 19156129, 19380743, 19738201, 20080638, 20085233, 20193073, 20305087, 20458337, 20467437, 20473970, 20585571, 21081666, 21145461, 21319273, 21525035, 21832049, 21942715, 22079093, 22145905, 22268729, 22337587, 22623428, 22810585, 22863883, 22939629, 23011926, 23022380, 23184937, 23349634, 23376485, 23383273, 23398456, 23438482, 23443559, 23455922, 23658844, 23752268, 24169447, 24337577, 24366813, 24711643, 24927568, 25144556, 25147182, 25192599, 25306918, 25324306, 25342745, 25467444, 25468996, 25499913, 25515538, 25631074, 25737280, 25756610, 25817432, 25852190, 25921289, 25944111, 25963833, 26186194, 26304164, 26344197, 26460568, 26496610, 26549023, 26638075, 26641092, 26693507, 26811472, 7584026, 7584028, 7890169, 8125298, 8590283,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Cell projection, Chaperone, Cilium, Complete proteome, Cytoplasm, Cytoskeleton, Direct protein sequencing, Isopeptide bond, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:T-complex protein 1 subunit theta, cross-link:Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin), modified residue, sequence conflict, sequence variant,
UP_TISSUE Adipose tissue, B-cell lymphoma, Bone marrow, Chondrosarcoma, Epithelium, Liver, Renal cell carcinoma,
1188 chloride voltage-gated channel Kb(CLCNKB) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000184908,
GAD_DISEASE blood pressure, arterial hypertension, heart rate hypertension renin activity, hypertension, quantitative traits, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT transport, excretion, ion transmembrane transport, chloride transmembrane transport, regulation of anion transmembrane transport,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, integral component of membrane, chloride channel complex,
GOTERM_MF_DIRECT voltage-gated chloride channel activity, chloride ion binding, metal ion binding,
INTERPRO Cystathionine beta-synthase, core, Chloride channel, voltage gated, Chloride channel ClC-K, Chloride channel, core,
KEGG_PATHWAY Collecting duct acid secretion,
OFFICIAL_GENE_SYMBOL CLCNKB,
OMIM_DISEASE Bartter syndrome, type 3, Bartter syndrome, type 4b, digenic,
PFAM CBS domain, Voltage gated chloride channel,
PUBMED_ID 10906158, 11102542, 11734858, 11865110, 12472765, 12477932, 14502078, 14675050, 14702039, 15044642, 15148291, 15531551, 15671602, 16003175, 16344560, 16391491, 16849430, 16902263, 17137217, 17143181, 17510212, 17622951, 17652939, 17997379, 18094726, 18648499, 19058262, 19096086, 19226700, 19807735, 19913121, 20467438, 20628086, 20805576, 21479528, 21631963, 21644212, 21865213, 22578033, 23345488, 23703872, 24271511, 24863058, 25919862, 25923035, 26013830, 26063802, 26453302, 8041726, 8544406, 8812470, 9326936,
SMART CBS,
UP_KEYWORDS Alternative splicing, Bartter syndrome, Calcium, CBS domain, Cell membrane, Chloride, Chloride channel, Complete proteome, Deafness, Disease mutation, Glycoprotein, Ion channel, Ion transport, Membrane, Metal-binding, Polymorphism, Reference proteome, Repeat, Transmembrane, Transmembrane helix, Transport, Voltage-gated channel,
UP_SEQ_FEATURE chain:Chloride channel protein ClC-Kb, domain:CBS 1, domain:CBS 2, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, topological domain:Cytoplasmic, transmembrane region,
UP_TISSUE Kidney, Uterus,
1105 chromodomain helicase DNA binding protein 1(CHD1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000153922,
GAD_DISEASE Attention Deficit Disorder with Hyperactivity, Stomach Neoplasms, Tobacco Use Disorder,
GOTERM_BP_DIRECT chromatin remodeling, transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, covalent chromatin modification, DNA duplex unwinding, positive regulation by host of viral transcription,
GOTERM_CC_DIRECT nucleus, cytoplasm,
GOTERM_MF_DIRECT DNA binding, ATP-dependent DNA helicase activity, helicase activity, protein binding, ATP binding, methylated histone binding,
INTERPRO SNF2-related, Chromo domain/shadow, Helicase, C-terminal, Helicase, superfamily 1/2, ATP-binding domain, Chromo domain-like, Chromo domain, conserved site, Chromo domain, Domain of unknown function DUF4208, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL CHD1,
PFAM SNF2 family N-terminal domain, Helicase conserved C-terminal domain, Chromo (CHRromatin Organisation MOdifier) domain, Domain of unknown function (DUF4208),
PUBMED_ID 10199952, 12477932, 12522270, 12890497, 14702039, 15146197, 16009940, 16263726, 16372014, 16728976, 17081983, 17098252, 17353931, 17540172, 18817785, 19322201, 19441106, 19625449, 20363151, 20379614, 20431927, 20850016, 21029866, 21979373, 22044751, 22046413, 22048254, 22139082, 22179824, 22419161, 22586326, 22779921, 23492366, 24024966, 24711643, 24735615, 24853335, 25175909, 25297984, 25332235, 25770290, 25879624, 25921289, 26344197, 26496610, 26751641, 26792750, 27591891, 7739555, 8460153, 8889548, 9326634,
SMART CHROMO, DEXDc, HELICc, SM01176,
UP_KEYWORDS 3D-structure, Alternative splicing, ATP-binding, Chromatin regulator, Coiled coil, Complete proteome, Cytoplasm, DNA-binding, Helicase, Hydrolase, Nucleotide-binding, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Chromodomain-helicase-DNA-binding protein 1, compositionally biased region:Ser-rich, domain:Chromo 1, domain:Chromo 2, domain:Helicase ATP-binding, domain:Helicase C-terminal, helix, modified residue, nucleotide phosphate-binding region:ATP, region of interest:3 X 5 AA repeats of H-S-D-H-R, repeat:1, repeat:2, repeat:3, sequence conflict, sequence variant, short sequence motif:DEAH box, splice variant, strand, turn,
UP_TISSUE Caudate nucleus, Epithelium, Testis,
647024 chromosome 6 open reading frame 132(C6orf132) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188112,
OFFICIAL_GENE_SYMBOL C6orf132,
PUBMED_ID 24529757,
UP_KEYWORDS Alternative splicing, Complete proteome, Methylation, Phosphoprotein, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein C6orf132, compositionally biased region:Pro-rich, modified residue, sequence variant, splice variant,
UP_TISSUE Adrenal tumor, Carcinoma, Colon tumor, Embryo,
257169 chromosome 9 open reading frame 43(C9orf43) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000157653,
GAD_DISEASE Cleft Lip|Cleft Palate,
GOTERM_MF_DIRECT protein binding,
OFFICIAL_GENE_SYMBOL C9orf43,
PFAM Domain of unknown function (DUF4647),
PUBMED_ID 12477932, 15164053, 15489334, 16344560, 20583170, 21244100, 21832049, 25814554,
UP_KEYWORDS Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein C9orf43, compositionally biased region:Gln-rich, modified residue, sequence variant,
UP_TISSUE Cervix, Epithelium, Testis,
375759 chromosome 9 open reading frame 50(C9orf50) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000179058,
OFFICIAL_GENE_SYMBOL C9orf50,
PUBMED_ID 12477932, 14702039, 16344560, 21382349, 22041458, 23934736,
UP_KEYWORDS Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein C9orf50, sequence conflict, sequence variant,
UP_TISSUE Testis,
157983 chromosome 9 open reading frame 66(C9orf66) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000183784,
GAD_DISEASE Heart Failure,
OFFICIAL_GENE_SYMBOL C9orf66,
PUBMED_ID 12477932, 14702039, 15164053, 18976975,
UP_KEYWORDS Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein C9orf66, compositionally biased region:Arg-rich, sequence conflict, sequence variant,
UP_TISSUE Kidney, PCR rescued clones,
348807 cilia and flagella associated protein 100(CFAP100) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163885,
GAD_DISEASE Insulin,
GOTERM_BP_DIRECT cilium movement, inner dynein arm assembly, regulation of microtubule motor activity,
GOTERM_CC_DIRECT cytoplasm, motile cilium, axonemal outer doublet,
GOTERM_MF_DIRECT dynein complex binding,
INTERPRO Domain of unknown function DUF4200,
OFFICIAL_GENE_SYMBOL CFAP100,
PFAM Domain of unknown function (DUF4200),
PUBMED_ID 12477932, 14702039, 15489334, 22011669, 23455924, 23569216, 26598620,
UP_KEYWORDS Alternative splicing, Cell projection, Cilium, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 37, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Ser, modified residue, sequence conflict, splice variant,
UP_TISSUE Testis,
85452 cilia and flagella associated protein 74(CFAP74) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000142609,
GOTERM_BP_DIRECT axoneme assembly,
GOTERM_CC_DIRECT cytoplasm, axoneme,
OFFICIAL_GENE_SYMBOL CFAP74,
PUBMED_ID 11181995, 11214970, 12477932, 14702039, 15489334, 17974005, 21555518, 26186194,
UP_KEYWORDS Alternative splicing, Cell projection, Cilium, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein KIAA1751, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain,
11113 citron rho-interacting serine/threonine kinase(CIT) Related Genes Homo sapiens
COG_ONTOLOGY Cell division and chromosome partitioning,
ENSEMBL_GENE_ID ENSG00000122966,
GAD_DISEASE Bipolar Disorder, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT G2/M transition of mitotic cell cycle, cytokinesis, protein phosphorylation, Golgi organization, mitotic nuclear division, regulation of actin polymerization or depolymerization, positive regulation of cytokinesis, intracellular signal transduction, generation of neurons,
GOTERM_CC_DIRECT intracellular, cytosol, plasma membrane, membrane, Golgi cisterna, neuronal cell body,
GOTERM_MF_DIRECT protein kinase activity, protein serine/threonine kinase activity, protein binding, ATP binding, Rho GTPase binding, SH3 domain binding, PDZ domain binding, metal ion binding, scaffold protein binding,
INTERPRO Protein kinase, catalytic domain, AGC-kinase, C-terminal, Citron-like, Pleckstrin homology domain, Protein kinase C-like, phorbol ester/diacylglycerol binding, Serine/threonine-protein kinase, active site, Protein kinase-like domain, Pleckstrin homology-like domain, Citron Rho-interacting kinase, Protein kinase, ATP binding site,
OFFICIAL_GENE_SYMBOL CIT,
PFAM Protein kinase domain, PH domain, CNH domain,
PUBMED_ID 10231032, 10862698, 11086988, 12411428, 12477932, 12506198, 12773565, 14702039, 15122253, 15983625, 16236794, 16431929, 16541075, 16565220, 17081983, 17118119, 17474715, 17534152, 19322201, 19328558, 19913121, 19946888, 20084519, 20369383, 20379614, 20628086, 21748597, 21849473, 22293177, 22761715, 22939629, 23444367, 24163370, 24457600, 24711643, 25665131, 26496610, 26524911, 8543060, 9792683, 9870942,
SMART CNH, C1, S_TK_X, S_TKc, PH,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Cell cycle, Cell division, Coiled coil, Complete proteome, Cytoplasm, Developmental protein, Differentiation, Kinase, Metal-binding, Mitosis, Neurogenesis, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Serine/threonine-protein kinase, SH3-binding, Transferase, Zinc, Zinc-finger,
UP_SEQ_FEATURE active site:Proton acceptor, binding site:ATP, chain:Citron Rho-interacting kinase, domain:AGC-kinase C-terminal, domain:CNH, domain:PH, domain:Protein kinase, modified residue, nucleotide phosphate-binding region:ATP, region of interest:Interaction with Rho/Rac, sequence conflict, sequence variant, short sequence motif:SH3-binding, splice variant, zinc finger region:Phorbol-ester/DAG-type,
UP_TISSUE Brain, Epithelium,
93233 coiled-coil domain containing 114(CCDC114) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000105479,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cilium movement, outer dynein arm assembly,
GOTERM_CC_DIRECT cilium, axoneme, outer dynein arm,
GOTERM_MF_DIRECT protein binding,
OFFICIAL_GENE_SYMBOL CCDC114,
OMIM_DISEASE Ciliary dyskinesia, primary, 20,
PUBMED_ID 12477932, 14702039, 16344560, 19913121, 20301301, 20628086, 23261302, 23261303, 23506398, 24104479, 25192045, 25416956,
UP_KEYWORDS Alternative splicing, Cell projection, Ciliopathy, Cilium, Coiled coil, Complete proteome, Phosphoprotein, Polymorphism, Primary ciliary dyskinesia, Reference proteome,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 114, compositionally biased region:Ser-rich, sequence conflict, sequence variant, splice variant,
UP_TISSUE Lung, Testis,
84865 coiled-coil domain containing 142(CCDC142) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000135637,
INTERPRO Coiled-coil domain-containing protein 142,
OFFICIAL_GENE_SYMBOL CCDC142,
PUBMED_ID 12477932, 14702039, 16303743, 21790010, 8889548,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 142, sequence variant, splice variant,
UP_TISSUE Brain, Placenta,
55036 coiled-coil domain containing 40(CCDC40) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000141519,
GAD_DISEASE Body Height,
GOTERM_BP_DIRECT heart looping, cilium movement, epithelial cilium movement, regulation of cilium beat frequency, sperm motility, lung development, determination of pancreatic left/right asymmetry, inner dynein arm assembly, motile cilium assembly, epithelial cilium movement involved in determination of left/right asymmetry, axonemal dynein complex assembly, determination of digestive tract left/right asymmetry, determination of liver left/right asymmetry,
GOTERM_CC_DIRECT cytoplasm, cilium, axoneme,
INTERPRO E3 ubiquitin ligase, BRE1,
OFFICIAL_GENE_SYMBOL CCDC40,
OMIM_DISEASE Ciliary dyskinesia, primary, 15,
PFAM BRE1 E3 ubiquitin ligase,
PUBMED_ID 10997877, 12477932, 14702039, 16344560, 20301301, 20714864, 21131974, 21832049, 22499950, 22693285, 23255504, 23382691, 25493340,
UP_KEYWORDS Alternative splicing, Cell projection, Ciliopathy, Cilium, Coiled coil, Complete proteome, Cytoplasm, Phosphoprotein, Polymorphism, Primary ciliary dyskinesia, Reference proteome,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 40, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Hepatoma, Prostate, Testis,
283234 coiled-coil domain containing 88B(CCDC88B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000168071,
GOTERM_BP_DIRECT positive regulation of cytokine production, positive regulation of T cell proliferation, defense response to protozoan, positive regulation of T cell activation,
GOTERM_CC_DIRECT membrane,
INTERPRO HOOK/CCDC88,
OFFICIAL_GENE_SYMBOL CCDC88B,
PFAM HOOK protein,
PUBMED_ID 11230166, 12477932, 14667819, 14702039, 15882442, 19946888, 20936779, 21289099, 22837380, 23128233, 25642632, 25762780, 26167880,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Signal,
UP_SEQ_FEATURE chain:Coiled-coil domain-containing protein 88B, compositionally biased region:Poly-Glu, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Spleen, Tongue,
440193 coiled-coil domain containing 88C(CCDC88C) Related Genes Homo sapiens
COG_ONTOLOGY Cell division and chromosome partitioning,
ENSEMBL_GENE_ID ENSG00000015133,
GAD_DISEASE Body Mass Index, Insulin, Insulin Resistance, Waist Circumference,
GOTERM_BP_DIRECT regulation of protein phosphorylation, Wnt signaling pathway, stress-activated protein kinase signaling cascade, protein destabilization, protein homooligomerization,
GOTERM_CC_DIRECT cytoplasm,
GOTERM_MF_DIRECT PDZ domain binding, protein self-association,
INTERPRO HOOK/CCDC88,
OFFICIAL_GENE_SYMBOL CCDC88C,
OMIM_DISEASE Hydrocephalus, nonsyndromic, autosomal recessive, Spinocerebellar ataxia 40,
PFAM HOOK protein,
PUBMED_ID 10819331, 12477932, 14702039, 14750955, 16751776, 17185515, 20301317, 21031079, 21832049, 21900206, 22558309, 23042809, 23184937, 23535729, 23824909, 24255178, 24772479, 24923560, 25062847, 25416956, 26126266, 26186194, 26496610, 26577606, 8619474, 9110174,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Disease mutation, Neurodegeneration, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Spinocerebellar ataxia, Wnt signaling pathway,
UP_SEQ_FEATURE chain:Protein Daple, modified residue, region of interest:DVL1-binding, sequence conflict, sequence variant, short sequence motif:PDZ-binding, splice variant,
UP_TISSUE B-cell, Blood, Lymph, Stomach,
1292 collagen type VI alpha 2 chain(COL6A2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000142173,
GAD_DISEASE Alzheimer's disease ,
GOTERM_BP_DIRECT cell adhesion, response to glucose, extracellular matrix organization, collagen catabolic process, protein heterotrimerization,
GOTERM_CC_DIRECT extracellular region, proteinaceous extracellular matrix, collagen trimer, extracellular space, endoplasmic reticulum lumen, extracellular matrix, sarcolemma, protein complex, extracellular exosome, extracellular vesicle,
GOTERM_MF_DIRECT protein binding,
INTERPRO von Willebrand factor, type A, Collagen triple helix repeat,
KEGG_PATHWAY PI3K-Akt signaling pathway, Focal adhesion, ECM-receptor interaction, Protein digestion and absorption,
OFFICIAL_GENE_SYMBOL COL6A2,
OMIM_DISEASE Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Myosclerosis, congenital,
PFAM von Willebrand factor type A domain, Collagen triple helix repeat (20 copies),
PUBMED_ID 10830953, 11381124, 11865138, 12011280, 12176987, 12218063, 12297580, 12374585, 12477932, 12812986, 12840783, 14702039, 14981181, 15146197, 1544908, 15489334, 1556127, 15563506, 1602151, 16075202, 16141002, 1690728, 17602442, 1765372, 18029348, 18366090, 18400749, 18852439, 19199708, 19204726, 19309692, 19698785, 20106987, 20301468, 20301676, 20302629, 20551380, 21988832, 22261194, 23138527, 23452080, 23658023, 23869615, 24443028, 24769233, 24801232, 25204870, 2551668, 25533456, 26186194, 3198591, 3348212, 3665927, 6852033, 8168508, 8305732, 8782832, 9099729, 9334230,
SMART VWA,
UP_KEYWORDS Alternative splicing, Cell adhesion, Collagen, Complete proteome, Direct protein sequencing, Disease mutation, Extracellular matrix, Glycoprotein, Hydroxylation, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Collagen alpha-2(VI) chain, domain:VWFA 1, domain:VWFA 2, domain:VWFA 3, glycosylation site:N-linked (GlcNAc...), modified residue, region of interest:Nonhelical region, region of interest:Triple-helical region, sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide, splice variant,
UP_TISSUE Fibroblast, Kidney, Liver, Ovary, Placenta, Uterus,
1302 collagen type XI alpha 2 chain(COL11A2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204248,
GAD_DISEASE Alzheimer's disease , Arthritis, Rheumatoid, Cholesterol, LDL, Cleft Lip|Cleft Palate, Creatinine, diabetes, type 1 , disc degeneration, disc degeneration, intervertebral, Intervertebral Disk Displacement, Lupus Erythematosus, Systemic, ossification of spine, ossification of the posterior longitudinal ligament of the spine, Osteoarthritis, osteochondrodysplasias, Spinal Diseases, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT skeletal system development, ossification, tissue homeostasis, chondrocyte differentiation, sensory perception of sound, collagen fibril organization, collagen catabolic process, skeletal system morphogenesis, cartilage development, palate development, soft palate development,
GOTERM_CC_DIRECT extracellular region, proteinaceous extracellular matrix, collagen trimer, collagen type XI trimer, endoplasmic reticulum lumen, ribosome,
GOTERM_MF_DIRECT extracellular matrix structural constituent, protein binding, extracellular matrix structural constituent conferring tensile strength, protein binding, bridging, metal ion binding,
INTERPRO Fibrillar collagen, C-terminal, Laminin G domain, Collagen triple helix repeat, Concanavalin A-like lectin/glucanase, subgroup,
KEGG_PATHWAY PI3K-Akt signaling pathway, Focal adhesion, ECM-receptor interaction, Platelet activation, Protein digestion and absorption, Amoebiasis,
OFFICIAL_GENE_SYMBOL COL11A2,
OMIM_DISEASE Stickler syndrome, type III, Otospondylomegaepiphyseal dysplasia, Weissenbacher-Zweymuller syndrome, Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2,
PFAM Collagen triple helix repeat (20 copies), Fibrillar collagen C-terminal domain, Laminin G domain,
PUBMED_ID 10581026, 10677296, 11289713, 11341341, 11780999, 12477932, 12554743, 12673280, 14574404, 15558753, 15922184, 16033917, 16133074, 16609882, 16734381, 17471097, 17703188, 18040076, 18193043, 18309376, 18381781, 18469698, 18830248, 19180518, 19204726, 19615732, 19851445, 19913121, 20301479, 20301607, 20618517, 20628086, 20634891, 20672350, 21204229, 21293383, 21900206, 22112025, 22246659, 22796475, 22808956, 23624467, 23740775, 24097066, 25240749, 25633957, 25780254, 2591970, 2760050, 7559422, 7560887, 7721876, 7836472, 7859284, 8325374, 8663204, 8838804, 9101290, 9106521, 9188673, 9506662, 9585596, 9805126,
SMART COLFI, TSPN, LamG,
UP_KEYWORDS Alternative splicing, Calcium, Collagen, Complete proteome, Deafness, Disease mutation, Disulfide bond, Dwarfism, Extracellular matrix, Glycoprotein, Hydroxylation, Metal-binding, Non-syndromic deafness, Polymorphism, Proteomics identification, Reference proteome, Repeat, Ribonucleoprotein, Ribosomal protein, Secreted, Signal, Stickler syndrome,
UP_SEQ_FEATURE chain:Collagen alpha-2(XI) chain, compositionally biased region:Poly-Glu, domain:Fibrillar collagen NC1, domain:TSP N-terminal, glycosylation site:N-linked (GlcNAc...), propeptide:C-terminal propeptide, region of interest:Nonhelical region, region of interest:Triple-helical region, sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Cartilage, Skin, Uterus,
80781 collagen type XVIII alpha 1 chain(COL18A1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000182871,
GAD_DISEASE Atopy, Bladder Cancer, Breast Cancer, chronic obstructive pulmonary disease, Diabetes Mellitus, Type 2|Obesity, Endometriosis, gastric adenocarcinoma, Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary, Hepatopulmonary Syndrome|Liver Cirrhosis, leukemia, Lung Cancer, lung cancer , multiple myeloma, Myopia, prostate cancer, Socioeconomic Factors,
GOTERM_BP_DIRECT angiogenesis, endothelial cell morphogenesis, cell adhesion, visual perception, positive regulation of cell proliferation, negative regulation of cell proliferation, organ morphogenesis, extracellular matrix organization, positive regulation of cell migration, collagen catabolic process, response to drug, response to hydrostatic pressure, positive regulation of endothelial cell apoptotic process,
GOTERM_CC_DIRECT extracellular region, proteinaceous extracellular matrix, collagen trimer, basement membrane, extracellular space, endoplasmic reticulum lumen, extracellular matrix, extracellular exosome,
GOTERM_MF_DIRECT structural molecule activity, identical protein binding, metal ion binding,
INTERPRO Laminin G domain, Collagen triple helix repeat, Domain of unknown function DUF959, collagen XVIII, N-terminal, Collagenase NC10/endostatin, Concanavalin A-like lectin/glucanase, subgroup, C-type lectin-like, C-type lectin fold, Frizzled domain,
KEGG_PATHWAY Protein digestion and absorption,
OFFICIAL_GENE_SYMBOL COL18A1,
OMIM_DISEASE Knobloch syndrome, type 1,
PFAM Collagen triple helix repeat (20 copies), Fz domain, Domain of Unknown Function (DUF959) , Collagenase NC10 and Endostatin,
PUBMED_ID 10544250, 10716919, 10830953, 10942434, 11158588, 11336704, 11517600, 11606364, 11700031, 11781696, 11815623, 11911017, 11937714, 12023034, 12029087, 12174873, 12209593, 12231538, 12237301, 12408231, 12415512, 12458056, 12477932, 12479859, 12486154, 12581742, 12682293, 12693719, 12766032, 12839947, 12857600, 14514474, 14519482, 14614989, 14695535, 14702039, 14732364, 14760864, 14973128, 15014038, 15146197, 15148373, 15231747, 15254016, 15296943, 15328173, 15334690, 15374730, 15464359, 15489334, 15540202, 15605080, 15662127, 15694132, 15714516, 15735323, 15950618, 15985216, 16008891, 16025479, 16269408, 16320826, 16358965, 16466644, 16793908, 16807676, 16866623, 16998835, 17011029, 17067672, 17482599, 17526870, 17544408, 17546652, 17587451, 17615292, 17653045, 17975799, 18006826, 18029348, 18054814, 18345385, 18360823, 18381814, 18382662, 18478248, 18676680, 18818971, 19056867, 19074676, 19084038, 19127216, 19160445, 19170196, 19199708, 19223770, 19298526, 19390655, 19431146, 19542224, 19585274, 19615205, 19622587, 19625176, 19631658, 19692168, 19877579, 19961619, 20027339, 20063989, 20156196, 20346360, 20361288, 20396759, 20551380, 20562859, 20616167, 20799329, 20819778, 20979194, 21085708, 21163348, 21193414, 21457400, 21486700, 21527992, 21771176, 21815140, 21896479, 21937992, 21963851, 21968021, 22009965, 22261194, 22268729, 22303445, 22431315, 22461898, 22512651, 22733742, 22745009, 22819906, 23376485, 23443559, 23533145, 23605255, 23621901, 23641912, 23658023, 23667181, 23850146, 23912396, 23958573, 23979707, 24021340, 24030549, 24089677, 24117177, 24393402, 24507774, 24600079, 24722050, 24998915, 25024173, 25093596, 25192599, 25339042, 25392994, 25424718, 25456301, 25481287, 25489667, 25788476, 25840998, 26186194, 26275402, 26315510, 26508657, 26771970, 27214260, 8183893, 8183894, 8188291, 8776601, 8838808, 9008168, 9459295, 9503365, 9687493, 9724722,
SMART FRI, TSPN,
UP_KEYWORDS 3D-structure, Alternative promoter usage, Alternative splicing, Cell adhesion, Collagen, Complete proteome, Disulfide bond, Extracellular matrix, Glycoprotein, Hydroxylation, Metal-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Zinc,
UP_SEQ_FEATURE chain:Collagen alpha-1(XVIII) chain, chain:Endostatin, disulfide bond, domain:FZ, domain:TSP N-terminal, glycosylation site:N-linked (GlcNAc...), glycosylation site:O-linked (GalNAc...), helix, metal ion-binding site:Zinc, region of interest:Nonhelical region 1 (NC1), region of interest:Nonhelical region 10 (NC10), region of interest:Nonhelical region 11 (NC11), region of interest:Nonhelical region 2 (NC2), region of interest:Nonhelical region 3 (NC3), region of interest:Nonhelical region 4 (NC4), region of interest:Nonhelical region 5 (NC5), region of interest:Nonhelical region 6 (NC6), region of interest:Nonhelical region 7 (NC7), region of interest:Nonhelical region 8 (NC8), region of interest:Nonhelical region 9 (NC9), region of interest:Triple-helical region 1 (COL1), region of interest:Triple-helical region 10 (COL10), region of interest:Triple-helical region 2 (COL2), region of interest:Triple-helical region 3 (COL3), region of interest:Triple-helical region 4 (COL4), region of interest:Triple-helical region 5 (COL5), region of interest:Triple-helical region 6 (COL6), region of interest:Triple-helical region 7 (COL7), region of interest:Triple-helical region 8 (COL8), region of interest:Triple-helical region 9 (COL9), sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide, splice variant, strand,
UP_TISSUE Kidney, Placenta, PNS,
8029 cubilin(CUBN) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000107611,
GAD_DISEASE Albuminuria, Alzheimer Disease, Alzheimer's disease , Amyotrophic Lateral Sclerosis, Blood Pressure, Body Height, Colorectal Cancer, Coronary Disease|Coronary heart disease|Inflammation|Insulin Resistance, Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1, Erythrocytes, folate pathway vitamin levels, hypertension, plasma HDL-C levels, prostate cancer, quantitative traits, Spinal Dysraphism, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone, Vitamin B 12, Waist Circumference,
GOTERM_BP_DIRECT tissue homeostasis, receptor-mediated endocytosis, cholesterol metabolic process, cobalamin metabolic process, protein transport, cobalamin transport, lipoprotein metabolic process, vitamin D metabolic process, lipoprotein transport,
GOTERM_CC_DIRECT lysosomal membrane, endoplasmic reticulum, Golgi apparatus, cytosol, plasma membrane, clathrin-coated pit, endosome membrane, membrane, apical plasma membrane, endocytic vesicle, extrinsic component of external side of plasma membrane, brush border membrane, lysosomal lumen, extracellular exosome,
GOTERM_MF_DIRECT receptor activity, transporter activity, calcium ion binding, protein binding, cobalamin binding, protein homodimerization activity,
INTERPRO EGF-type aspartate/asparagine hydroxylation site, Epidermal growth factor-like domain, CUB domain, EGF-like calcium-binding, Insulin-like growth factor binding protein, N-terminal, EGF-like, conserved site, EGF-like calcium-binding, conserved site, EGF domain, merozoite surface protein 1-like,
KEGG_PATHWAY Vitamin digestion and absorption,
OFFICIAL_GENE_SYMBOL CUBN,
OMIM_DISEASE Megaloblastic anemia-1, Finnish type,
PFAM EGF-like domain, CUB domain, Calcium-binding EGF domain, EGF domain,
PUBMED_ID 10037728, 10080186, 10371504, 10552972, 10811843, 10887099, 11278724, 11595644, 11606717, 11717447, 11788601, 11856751, 11994745, 12687456, 14576052, 15164054, 15342556, 15583024, 15616221, 15736970, 15951480, 16303743, 16385451, 17124247, 17487979, 17979745, 18448595, 18791690, 19056867, 19161160, 19197348, 19303062, 19366958, 19710015, 19744961, 19878569, 19913121, 20237569, 20379614, 20398757, 20615890, 20628086, 20852008, 20855565, 21082674, 21116278, 21355061, 21595846, 21750092, 21781439, 21903995, 22337902, 22437417, 22574174, 22761678, 22929189, 22990118, 23114252, 23376485, 23533145, 23824729, 23978537, 24052458, 24093454, 24097068, 24357674, 24533076, 24563210, 25147783, 26631737, 8510165, 9334227, 9478979, 9572993, 9691015,
SMART CUB, EGF_CA, EGF,
UP_KEYWORDS 3D-structure, Calcium, Cell membrane, Cholesterol metabolism, Cleavage on pair of basic residues, Coated pit, Cobalamin, Cobalt, Complete proteome, Direct protein sequencing, Disease mutation, Disulfide bond, EGF-like domain, Endocytosis, Endosome, Glycoprotein, Lipid metabolism, Lysosome, Membrane, Metal-binding, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Receptor, Reference proteome, Repeat, Signal, Steroid metabolism, Sterol metabolism, Transport,
UP_SEQ_FEATURE chain:Cubilin, disulfide bond, domain:CUB 1, domain:CUB 10, domain:CUB 11, domain:CUB 12, domain:CUB 13, domain:CUB 14, domain:CUB 15, domain:CUB 16, domain:CUB 17, domain:CUB 18, domain:CUB 19, domain:CUB 2, domain:CUB 20, domain:CUB 21, domain:CUB 22, domain:CUB 23, domain:CUB 24, domain:CUB 25, domain:CUB 26, domain:CUB 27, domain:CUB 3, domain:CUB 4, domain:CUB 5, domain:CUB 6, domain:CUB 7, domain:CUB 8, domain:CUB 9, domain:EGF-like 1, domain:EGF-like 2; calcium-binding, domain:EGF-like 3; calcium-binding, domain:EGF-like 4; calcium-binding, domain:EGF-like 5, domain:EGF-like 6, domain:EGF-like 7; calcium-binding, glycosylation site:N-linked (GlcNAc...), propeptide:Removed in mature form, sequence conflict, sequence variant, signal peptide, site:Cleavage; by furin,
UP_TISSUE Aorta endothelial cell,
900 cyclin G1(CCNG1) Related Genes Homo sapiens
BBID 26.cyclin-CDK_complexes,
ENSEMBL_GENE_ID ENSG00000113328,
GAD_DISEASE ovarian cancer,
GOTERM_BP_DIRECT regulation of cyclin-dependent protein serine/threonine kinase activity, mitotic nuclear division, cell division, regulation of cell cycle,
GOTERM_CC_DIRECT nucleoplasm,
GOTERM_MF_DIRECT protein binding,
INTERPRO Cyclin, N-terminal, Cyclin-like,
KEGG_PATHWAY p53 signaling pathway, MicroRNAs in cancer,
OFFICIAL_GENE_SYMBOL CCNG1,
PFAM Cyclin, N-terminal domain,
PUBMED_ID 10194136, 10196184, 11956189, 12214116, 12477932, 12556559, 12634633, 12642871, 12684677, 15077171, 15489334, 16322753, 17616664, 17868090, 18408012, 18632610, 18981217, 19584283, 19698214, 19738611, 21516116, 21688120, 21832049, 21988832, 22105316, 22271581, 22649121, 22658674, 22835824, 23589924, 23812426, 25007270, 25416956, 25472877, 26186194, 8626390, 8806701, 8887688, 8954786, 9013862,
SMART CYCLIN,
UP_KEYWORDS Alternative splicing, Cell cycle, Cell division, Complete proteome, Cyclin, Mitosis, Nucleus, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Cyclin-G1, sequence conflict, sequence variant,
UP_TISSUE Eye, Fetal spleen, Fibroblast, Human endometrium carcinoma cell line, Mammary gland, Prostate,
54544 cysteine rich C-terminal 1(CRCT1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000169509,
GAD_DISEASE Asthma, Glucose, Hair, monocyte chemoattractant protein 1 (66-77),
GOTERM_BP_DIRECT peptide cross-linking, keratinocyte differentiation,
GOTERM_CC_DIRECT cornified envelope, cytoplasm,
GOTERM_MF_DIRECT structural molecule activity, protein binding,
OFFICIAL_GENE_SYMBOL CRCT1,
PUBMED_ID 11230159, 12477932, 16169070, 16710414, 21804549, 23251661, 25416956,
UP_KEYWORDS Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Cysteine-rich C-terminal protein 1, compositionally biased region:Cys-rich, sequence variant,
UP_TISSUE Keratinocyte,
57105 cysteinyl leukotriene receptor 2(CYSLTR2) Related Genes Homo sapiens
BIOCARTA Eicosanoid Metabolism,
ENSEMBL_GENE_ID ENSG00000152207,
GAD_DISEASE Asthma, asthma rhinitis, Asthma|, Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate, Atopy, Carotid Artery Diseases, Rhinitis|Sinusitis, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT immune response, phospholipase C-activating G-protein coupled receptor signaling pathway, neuropeptide signaling pathway, positive regulation of cell death, positive regulation of angiogenesis, leukotriene signaling pathway, positive regulation of ERK1 and ERK2 cascade,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT cysteinyl leukotriene receptor activity, leukotriene receptor activity, protein binding, G-protein coupled peptide receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Cysteinyl leukotriene receptor, Cysteinyl leukotriene receptor 2, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Calcium signaling pathway, Neuroactive ligand-receptor interaction,
OFFICIAL_GENE_SYMBOL CYSLTR2,
PFAM 7 transmembrane receptor (rhodopsin family),
PUBMED_ID 1085123, 10851239, 10913337, 11093801, 11696047, 12044878, 12100046, 12477932, 12816881, 13679572, 14515063, 15057823, 15454733, 15475736, 15489334, 15545522, 15696087, 15970796, 16606835, 16754659, 16771777, 17404310, 17460547, 17693579, 17941281, 17991613, 18048362, 18366797, 18779380, 18946233, 19131661, 19247692, 19264973, 19450127, 19840403, 19913121, 20433311, 20628086, 20966037, 21203429, 21352274, 21753081, 22194989, 22634478, 23524649, 23829413, 24285579, 24792382, 25760841, 25839425, 26433531,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Receptor, Reference proteome, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Cysteinyl leukotriene receptor 2, disulfide bond, glycosylation site:N-linked (GlcNAc...), topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE G-protein coupled receptors, Placenta,
1080 cystic fibrosis transmembrane conductance regulator(CFTR) Related Genes Homo sapiens
BIOCARTA Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway,
ENSEMBL_GENE_ID ENSG00000001626,
GAD_DISEASE Abnormalities, Multiple|Chromosome Aberrations|Chromosome abnormality|Cystic Fibrosis|Echogenic Bowel|Fetal Diseases, Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms|Pancreatitis, alcohol, Alcoholism|Pancreatitis, Alcoholic, allergic bronchopulmonary aspergillosis ABPA, alpha 1-Antitrypsin Deficiency|Cystic Fibrosis|Mycobacterium Infections, Asthenozoospermia|Azoospermia|Oligospermia, Asthma, asthma; chronic obstructive pulmonary disease, Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate, Asthma|Bronchiectasis, Asthma|Pulmonary Disease, Chronic Obstructive, Atopic asthma, atypical sinopulmonary disease, Azoospermia, Azoospermia|Chromosome Deletion|Infertility, Male|Oligospermia|Sex Chromosome Aberrations, Azoospermia|Cystic Fibrosis, Azoospermia|Infertility, Male|Oligospermia, Bacterial Infections|Burkholderia Infections|Cystic Fibrosis|Pseudomonas Infections|Recurrence|Respiratory Tract Infections, BILIARY CIRRHOSIS|Cholangitis, Sclerosing|Cystic Fibrosis|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Liver Cirrhosis, Biliary, Birth Weight|Cystic Fibrosis|Ileus, blood pressure, arterial; cystic fibrosis, Body Weight|Cystic Fibrosis, Body Weight|Cystic Fibrosis|Growth Disorders, Bone Density, bronchiectasis, Bronchiectasis|Cystic Fibrosis|Pseudomonas Infections|Staphylococcal Infections, CFTR mutation spectrum, Child Nutrition Disorders|Cystic Fibrosis|Pseudomonas Infections|Respiratory Tract Infections, Cholangitis, Sclerosing, Cholangitis, Sclerosing|, Cholangitis, Sclerosing|Cystic Fibrosis|Hepatitis C|Hepatitis, Autoimmune, Cholangitis, Sclerosing|Disease Progression, Chromosome Aberrations|Chromosome abnormality|Cystic Fibrosis|Klinefelter Syndrome|Klinefelter's Syndrome|Oligospermia|Sex Chromosome Aberrations|Translocation, Genetic, chronic obstructive pulmonary disease, Colonic Diseases|Cystic Fibrosis|, congenital absence of the uterus and vagina, Congenital Bilateral Absence of the Vas Deferens, COPD, Crohn Disease|Crohn's disease, Cryptorchidism|Oligospermia, Cystic Fibrosis, cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD, cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD; 21-hydroxylase deficiency, cystic fibrosis; P. aeruginosa infection, Cystic Fibrosis|, Cystic Fibrosis|Dental Caries, Cystic Fibrosis|Diabetes Complications, Cystic Fibrosis|Diabetes Mellitus, Type 1|Hyperglycemia, Cystic Fibrosis|Exocrine Pancreatic Insufficiency, Cystic Fibrosis|Exocrine Pancreatic Insufficiency|Pancreatitis, Cystic Fibrosis|Exocrine Pancreatic Insufficiency|Pseudomonas Infections, Cystic Fibrosis|Exocrine Pancreatic Insufficiency|Recurrence, Cystic Fibrosis|Exocrine Pancreatic Insufficiency|Steatorrhea, Cystic Fibrosis|Gastrointestinal Diseases, Cystic Fibrosis|Growth Disorders|Nutrition Disorders, Cystic Fibrosis|Hypersensitivity|Infection|Nasal Polyps|Rhinitis|Sinusitis, Cystic Fibrosis|Ileus|Liver Diseases, Cystic Fibrosis|Infertility, Male, Cystic Fibrosis|Infertility, Male|Oligospermia, Cystic Fibrosis|Intussusception, Cystic Fibrosis|Liver Diseases, Cystic Fibrosis|Lung Diseases, Cystic Fibrosis|Maxillary Sinusitis|Sinusitis, Maxillary, Cystic Fibrosis|Pancreatitis, Cystic Fibrosis|Pancreatitis, Chronic, Cystic Fibrosis|Pancreatitis|Recurrence, Cystic Fibrosis|Paranasal Sinus Diseases|Sinus, Cystic Fibrosis|Polycystic Kidney, Autosomal Dominant, Cystic Fibrosis|Protein-Energy Malnutrition, Cystic Fibrosis|Pseudomonas Infections, Cystic Fibrosis|Respiratory Tract Diseases, Cystic Fibrosis|Rhinitis|Sinusitis, Cystic Fibrosis|Steatorrhea, Cystic Fibrosis|Urogenital Abnormalities, Diabetes mellitus type II|Diabetes Mellitus, Type 2|Pancreatitis, Alcoholic|Pancreatitis, Chronic, diabetes, type 2, drug-related genes , elevated sweat chloride concentrations, esophageal adenocarcinoma, Exocrine Pancreatic Insufficiency|Pancreatitis, Alcoholic|Pancreatitis, Chronic, Genetic Diseases, Inborn, head and neck cancer, Hyperlipidemias|Pancreatitis, Hyperparathyroidism, Primary|Pancreatitis, Infertility, Female|Infertility, Male, infertility, male, Infertility, Male|Oligospermia, Infertility, Male|Sex Chromosome Aberrations, Infertility, Male|Urogenital Abnormalities, liver disease, chronic, Lung Cancer, Lung disease, nasal polyposis, normal variation, null, Oligospermia, Osteoporosis, pancreas divisum, pancreatic cancer, Pancreatic Diseases|pancreatic neoplasm|Pancreatic Neoplasms|Pancreatitis, pancreatic neoplasm|Pancreatic Neoplasms|Pancreatitis, Pancreatitis, pancreatitis, acute pancreatitis, chronic, Pancreatitis, Alcoholic, Pancreatitis, Alcoholic|Pancreatitis, Chronic, Pancreatitis, Chronic, pancreatitis, chronic pancreatitis, recurrent, pancreatitis, recurrent, pancreatitis; hypertrypsinemia, Pancreatitis|Pancreatitis, Alcoholic, postnatal female survival, prostate cancer, Protection against bronchial asthma, Pseudomonas Infections|Recurrence|Rhinitis|Sinusitis, Pulmonary Disease, Pulmonary Disease, Chronic Obstructive, recurrent or chronic idiopathic pancreatitis, Sarcoidosis, Sarcoidosis, Pulmonary, Type 2 Diabetes| edema | rosiglitazone, Typhoid Fever, Urogenital Abnormalities,
GOTERM_BP_DIRECT cholesterol biosynthetic process, transport, vesicle docking involved in exocytosis, respiratory gaseous exchange, bicarbonate transport, cholesterol transport, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of exocytosis, sperm capacitation, intracellular pH elevation, transmembrane transport, membrane hyperpolarization, cellular response to cAMP, positive regulation of cyclic nucleotide-gated ion channel activity, chloride transmembrane transport, positive regulation of voltage-gated chloride channel activity,
GOTERM_CC_DIRECT cytoplasm, lysosomal membrane, early endosome, cytosol, plasma membrane, cell surface, membrane, integral component of membrane, basolateral plasma membrane, apical plasma membrane, Golgi-associated vesicle membrane, endoplasmic reticulum Sec complex, early endosome membrane, chloride channel complex, protein complex, recycling endosome, extracellular exosome,
GOTERM_MF_DIRECT ATP-binding and phosphorylation-dependent chloride channel activity, chloride channel activity, channel-conductance-controlling ATPase activity, protein binding, ATP binding, bicarbonate transmembrane transporter activity, chloride transmembrane transporter activity, ATPase activity, chloride channel regulator activity, chloride channel inhibitor activity, enzyme binding, PDZ domain binding, ATPase activity, coupled to transmembrane movement of substances, anion transmembrane-transporting ATPase activity,
INTERPRO ABC transporter-like, AAA+ ATPase domain, Cystic fibrosis transmembrane conductance regulator, ABC transporter, transmembrane domain, type 1, ABC transporter, conserved site, CFTR regulator domain, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY ABC transporters, cAMP signaling pathway, AMPK signaling pathway, Gastric acid secretion, Pancreatic secretion, Bile secretion, Vibrio cholerae infection,
OFFICIAL_GENE_SYMBOL CFTR,
OMIM_DISEASE Pancreatitis, idiopathic, Bronchiectasis with or without elevated sweat chloride 1, modifier of, Cystic fibrosis, Congenital bilateral absence of vas deferens, Hypertrypsinemia, neonatal, Sweat chloride elevation without CF,
PFAM ABC transporter, ABC transporter transmembrane region, Cystic fibrosis TM conductance regulator (CFTR), regulator domain,
PUBMED_ID 10075921, 10094564, 10200050, 10561583, 10581360, 10651488, 10666020, 10766763, 10799517, 10852925, 10862786, 10893422, 10982807, 11025834, 11051556, 11095651, 11104661, 11109941, 11115825, 11117575, 11134427, 11146634, 11158634, 11168024, 11175304, 11186891, 11243954, 11304524, 11333866, 11354633, 11356077, 11379874, 11397675, 11400707, 11462247, 11462248, 11529289, 11536079, 11569691, 11574497, 11597137, 11667976, 11680956, 11683083, 11686989, 11688981, 11707463, 11713441, 11713719, 11715005, 11748227, 11756355, 11773581, 11788089, 11788090, 11788091, 11796434, 11799116, 11802245, 11813900, 11845294, 11845300, 11845302, 11845308, 11845310, 11845311, 11845316, 11856314, 11867445, 11872746, 11882786, 11883825, 11897640, 11897641, 11908853, 11933191, 11936773, 11940532, 11950844, 11956211, 11984593, 12009340, 12014388, 12023951, 12039948, 12054472, 12059073, 12068629, 12069690, 12070134, 12073281, 12080183, 12084577, 12084728, 12095312, 12110684, 12120220, 12120233, 12120234, 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SMART AAA,
UP_KEYWORDS 3D-structure, Alternative splicing, ATP-binding, Cell membrane, Chloride, Chloride channel, Complete proteome, Disease mutation, Endosome, Glycoprotein, Hydrolase, Ion channel, Ion transport, Isopeptide bond, Lipoprotein, Membrane, Nucleotide-binding, Palmitate, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transmembrane, Transmembrane helix, Transport, Ubl conjugation,
UP_SEQ_FEATURE chain:Cystic fibrosis transmembrane conductance regulator, domain:ABC transmembrane type-1 1, domain:ABC transmembrane type-1 2, domain:ABC transporter 1, domain:ABC transporter 2, glycosylation site:N-linked (GlcNAc...), helix, modified residue, nucleotide phosphate-binding region:ATP 1, nucleotide phosphate-binding region:ATP 2, sequence conflict, sequence variant, short sequence motif:PDZ-binding, splice variant, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region, turn,
1565 cytochrome P450 family 2 subfamily D member 6(CYP2D6) Related Genes Homo sapiens
COG_ONTOLOGY Secondary metabolites biosynthesis, transport, and catabolism,
ENSEMBL_GENE_ID ENSG00000100197,
GAD_DISEASE 9-Hydroxyrisperidone and Risperidone, acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma, acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms, Adenoma|Colorectal Neoplasms, Adenoma|Pituitary Neoplasms, ADHD | attention-deficit hyperactivity disorder, aging, Agitation|Dyskinesia, Drug-Induced|Psychomotor Agitation, agranulocytosis, Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder, Alzheimer's Disease, Alzheimer's disease , Alzheimer's disease|Parkinson's disease, amitriptyline metabolism, amitriptyline; nortriptyline, Amphetamine-Related Disorders, Amphetamine-Related Disorders|Brain Diseases, Metabolic, Anemia, Sickle Cell, Anemia, Sickle Cell|Pain|Sickle cell anemia, anticoagulant complications, antidepressant medication intolerance., Apnea|Opioid-Related Disorders|Pain, Arrhythmias, Cardiac|Ventricular Premature Complexes, arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;, arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response, arthritis; osteoarthritis, asthma; rhinitis, Asthma|, Atrial Fibrillation, Atrial Fibrillation|Postoperative Complications|Tachycardia, autism, Basal Ganglia Diseases, Basal Ganglia Diseases|, Basal Ganglia Diseases|Dyskinesia, Drug-Induced, Birth Weight|Critical Illness, Birth Weight|Fetal Growth Retardation, Bladder Cancer, BMI- Edema rosiglitazone or pioglitazone, Body Weight, Bone Mineral Density, Bradycardia|Glaucoma, Open-Angle|Ocular Hypertension, Breast Cancer, breast cancer , breast cancer; tamoxifen, prophylactic effect of, Breast Neoplasms, Breast Neoplasms|, Breast Neoplasms|Hot Flashes, Breast Neoplasms|Mammary Neoplasms, Breast Neoplasms|Mammary Neoplasms|Neoplasm Recurrence, Local, Breast Neoplasms|Venous Thromboembolism, cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity, Carcinoma, Basal Cell|Neoplasms, Second Primary|Skin Basal Cell Carcinoma|Skin Neoplasms, Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma, cardiovascular disease, Cardiovascular Diseases, Cardiovascular Diseases|Kidney Diseases, cervical cancer, Chromosome Aberrations, Chromosome Aberrations|Chromosome abnormality, chronic obstructive pulmonary disease, Chronic renal failure|Kidney Failure, Chronic, cirrhosis, biliary primary, citalopram, citalopram metabolism, Cleft Lip|Cleft Palate, clomipramine metabolism, Clozapine, Colorectal Cancer, Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases, Coronary Artery Disease|Hypertension, CYP2C19 activity; CYP2D6 activitiy, CYP2D6 activitiy, CYP2D6 poor metabolizer phenotype, CYP2D6 poor metabolizer phenotype., CYP2D7/CYP2D6 poor metabolizer phenotype., dementia with Lewy bodies, Depression, Depression, Postpartum|Pregnancy Complications, Depressive Disorder, Major, Diabetes Mellitus, diabetes, type 2, diminished debrisoquine hydroxylase activity, Disorder of muscle, unspec|Hypercholesterolemia|Muscular Diseases, Disorders of Excessive Somnolence|Fatigue|Gastrointestinal Diseases|Respiratory Tract Infections|Rhinitis|Urticaria|Xerostomia, doxepin metabolism, Drug Hypersensitivity, drug oxidation, Drug-Induced Liver Injury, drug-related genes , Dyskinesia, Drug-Induced, Dyskinesia, Drug-Induced|Parkinsonian Disorders, Dysmenorrhea, efficacy and tolerability of simvastatin, endoxifen, Epilepsy, Tonic-Clonic, Essential Tremor, extrapyramidal side effects, fatal drug intoxication, flecainide and paroxetine, fluoxetine pharmacokinetics, fluvoxamine toxicity, Gastroparesis, glaucoma, H. pylori infection, Haematological Neoplasias, haloperidol, plasma, head and neck cancer, Heart Failure, heart rate; risperidone metabolism, Hepatitis C, Chronic|Liver Cirrhosis, Heroin Dependence|Substance-Related Disorders, HIV infection, HIV Infections, Human Longevity, Hypercholesterolemia, hypercholesterolemia; H. pylori infection; coagulation disorder, Hypercholesterolemia|LDLC levels, Hyperlipidemias, hypertension, Hypertension|Pregnancy Complications, Cardiovascular, hypoglycemia, Hyponatremia, Infection|Inflammation|Premature Birth, Inflammation|Premature Birth, inflammatory bowel disease , leukemia, leukemia, adult acute, leukemia, childhood acute lymphoblastic, Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Leukemia, Myeloid, Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence, Lewy bodies, Lichen Planus, Oral, liver cancer, liver cancer; liver disease, liver disease, loratadine pharmacokinetics, Low Back Pain, Lung Cancer, lung cancer , lung cancer; liver cancer, macular degeneration, major depressive disorder, malignant melanoma, malignant syndrome, Manganese Poisoning, manganism, susceptibility to occupational chronic, methadone toxicity, methamphetamine use, metoprolol, miscarriage, Multiple Chemical Sensitivity, Multiple Myeloma|Neoplasm Recurrence, Local, Multiple Sclerosis, multiple system atrophy, Muscular Diseases, nausea, Nausea|Neoplasms|Vomiting, nephropathy, Neuroleptic Malignant Syndrome, nomal variation, normal variation, null, opioid drug (tramadol) metabolite ratios, Opioid-Related Disorders|Pain, Pain, Postoperative, Pain, Postoperative|Stomach Neoplasms, Parkinson's Disease, Parkinson's disease , patent ductus arteriosus, Perioperative genomic profiles , personality, personality disorders, pharmacogenetic studies, phenytoin levels, plasma concentrations of carvedilol, plasma concentrations of fluoxetine and paroxetine, polycystic ovary syndrome, poor metabolizer of CYP2D6, Porphyrias|porphyrin disorder, Postoperative Nausea and Vomiting, postoperative tramadol analgesia, Precursor Cell Lymphoblastic Leukemia-Lymphoma, preeclampsia, preterm delivery, prostate cancer, Psychiatric Disorders, Psychophysiologic Disorders, Pulmonary Disease, Chronic Obstructive, Schizophrenia, Scleroderma, Diffuse|Scleroderma, Limited|Scleroderma, Systemic, seizures; thrombosis, deep vein; systemic sclerosis, simvastatin treatment, efficacy and tolerability, smoking, smoking behavior, Spondylitis, Ankylosing, Stomach Neoplasms, Substance Withdrawal Syndrome, systemic lupus erythematosus, tamoxifen, metabolism, tardive dyskinesia, timolol pharmacokinetics, tramadol pharmacokinetics, treatment resistance to typical neuroleptics, treatment response in psychotic patients, trimipramine pharmakokinetics, Tuberculosis, Pulmonary, Type 2 diabetes, typical antipsychotics, ulcer, gastric; repaglinide pharmacology; coagulation disorder, voriconazole,
GOTERM_BP_DIRECT xenobiotic metabolic process, steroid metabolic process, coumarin metabolic process, alkaloid metabolic process, alkaloid catabolic process, monoterpenoid metabolic process, drug metabolic process, arachidonic acid metabolic process, isoquinoline alkaloid metabolic process, drug catabolic process, heterocycle metabolic process, negative regulation of binding, oxidation-reduction process, oxidative demethylation, negative regulation of cellular organofluorine metabolic process,
GOTERM_CC_DIRECT mitochondrion, endoplasmic reticulum, endoplasmic reticulum membrane, integral component of membrane, organelle membrane,
GOTERM_MF_DIRECT monooxygenase activity, iron ion binding, drug binding, arachidonic acid epoxygenase activity, steroid hydroxylase activity, oxidoreductase activity, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen, oxygen binding, heme binding, aromatase activity,
INTERPRO Cytochrome P450, Cytochrome P450, E-class, group I, Cytochrome P450, E-class, group I, CYP2D-like, Cytochrome P450, conserved site,
KEGG_PATHWAY Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450, Serotonergic synapse,
OFFICIAL_GENE_SYMBOL CYP2D6,
OMIM_DISEASE Codeine sensitivity, Debrisoquine sensitivity,
PFAM Cytochrome P450,
PUBMED_ID 10064570, 10233205, 10493260, 10675100, 11037800, 11037802, 11055624, 11097351, 11097352, 11147929, 11204351, 11207030, 11207032, 11214775, 11266079, 11285084, 11291049, 11294012, 11295783, 11303596, 11372584, 11376189, 11422605, 11422615, 11442888, 11470994, 11477317, 11505218, 11505219, 11520401, 11549206, 11560558, 11668217, 11682257, 11702057, 11735606, 11741249, 11750286, 11751440, 11753271, 11753272, 11763000, 11778144, 11791895, 11809184, 11816009, 11829201, 11895912, 11901361, 11927839, 11940091, 12006905, 12063626, 12065557, 12077255, 12089164, 12106691, 12107620, 12142727, 12152006, 12171760, 12171978, 12172215, 12172336, 12175908, 12177686, 12187002, 12191703, 12206675, 12207635, 12210290, 12360109, 12386645, 12386646, 12392820, 12404686, 12419832, 12421483, 12422998, 12426523, 12438554, 12439227, 12446689, 12459840, 12468438, 12477932, 12486288, 12490310, 12503836, 12536989, 12548461, 12569554, 12579870, 12589966, 12610741, 12616663, 12622923, 12629505, 12651805, 12657030, 12691769, 12728976, 12734765, 12743673, 12748560, 12756206, 12756210, 12766554, 12782969, 12784098, 12861292, 12879168, 12879776, 12883230, 12893130, 12900870, 12900872, 12911679, 12915955, 12919180, 12942225, 12950145, 12960748, 12963435, 13680033, 14499311, 14499440, 14514498, 14515061, 14520122, 14557687, 14571354, 14602525, 14624403, 14635107, 14639062, 14640293, 14652703, 14653957, 14658041, 14716707, 14726620, 14726986, 14748763, 14985156, 14991823, 15005635, 15039299, 15048614, 15051713, 15061826, 15068562, 15090156, 15108188, 15115913, 15116051, 15118351, 15128046, 15149890, 15177309, 15205367, 15237854, 15256524, 15260906, 15289790, 15313161, 15319333, 15327587, 15330195, 15349705, 15349706, 15382273, 15461802, 15469410, 15469888, 15470329, 15484318, 15489334, 15499201, 15538128, 15584944, 15588859, 15590749, 15592325, 15618665, 15625333, 15632378, 15646732, 15648054, 15651900, 15669884, 15680923, 15690482, 15691505, 15708542, 15726636, 15729081, 15731591, 15764408, 15768052, 15769360, 15770075, 15774926, 15813658, 15817819, 15820320, 15843230, 15855722, 15861039, 15914211, 15932952, 15952058, 15970126, 15987423, 16006997, 16024198, 16025294, 16037945, 16048566, 16079496, 16130179, 16141609, 16160620, 16162505, 16189709, 16198657, 16205777, 16220080, 16236141, 16239355, 16249913, 16272752, 16283274, 16294366, 16315032, 16337409, 16352597, 16361630, 16401082, 16415111, 16423440, 16459354, 16466686, 16476126, 16478753, 16490169, 16493615, 16534507, 16537246, 16544144, 16550211, 16551910, 16584388, 16595916, 16611538, 16633140, 16633141, 16638736, 16638864, 16642541, 16679388, 16712791, 16716118, 1673290, 16771603, 16775389, 16778723, 16812949, 16815318, 16819548, 16833023, 16835697, 16845507, 16849011, 16855473, 16858124, 16864175, 16880622, 16924387, 16960721, 17038884, 17089107, 17102541, 17113562, 17115111, 17178267, 17186005, 17194620, 17224713, 17225875, 17234366, 17241532, 17242628, 17244352, 17250723, 17259947, 17270484, 17289397, 17297618, 17301689, 17304721, 17311358, 17324244, 17325735, 17329852, 17361124, 17374963, 17392730, 17418993, 17431033, 17442289, 17449559, 17450472, 17454842, 17460029, 17470523, 17479406, 17503978, 17517247, 17530572, 17536768, 17541883, 17547692, 17554527, 17568504, 17570739, 17573783, 17581325, 17609736, 17610534, 17624022, 17635181, 17635183, 17667795, 17667959, 17697394, 17700359, 17701031, 17713466, 17714084, 17715206, 17725248, 17761971, 17764479, 17803873, 17828532, 17882159, 17908053, 17909762, 17921051, 17947222, 17957765, 17965519, 17965522, 17966194, 17971818, 17992535, 18024866, 18034624, 18048313, 18061941, 18070221, 18075468, 18086475, 18165569, 18167502, 18183034, 18197300, 18202841, 18204346, 18211048, 18214456, 18214849, 18223460, 18231117, 18240905, 18258609, 18261353, 18280655, 18287869, 18294285, 18300942, 18304900, 18317231, 18327668, 18346175, 18346782, 18356043, 18372530, 18382661, 18384443, 18401578, 18407954, 18414197, 18423013, 18425152, 18425996, 18429752, 18433425, 18445827, 1844820, 18474629, 18474679, 18480698, 18520596, 18520597, 18543297, 18545991, 18547414, 18551040, 18553077, 18583979, 18597648, 18618215, 18625943, 18632250, 18641553, 18648788, 18663559, 18666237, 18676680, 18681789, 18690546, 18698000, 18708991, 18713907, 18719619, 18725510, 18728242, 18754843, 18784265, 18784654, 18794098, 18794105, 18797858, 18818748, 18827765, 18834373, 18840375, 18927241, 18958918, 18978520, 18979093, 18996102, 19000552, 19000940, 19001559, 19019335, 19024387, 19025845, 19032724, 19033450, 19037197, 19047159, 19071885, 19082882, 19094446, 19095219, 19142106, 19151603, 19153830, 19156902, 19162321, 19164093, 19169185, 19170196, 19189210, 19189212, 19192051, 19194367, 19219744, 19219857, 19225771, 19242697, 19284319, 19290787, 19296901, 19303860, 19308365, 19320528, 19330589, 19336370, 19343046, 19350405, 19356055, 19357842, 19364831, 19365402, 19374513, 19387424, 19387994, 19395173, 19405050, 19421167, 19429471, 19437119, 19438707, 19444434, 19448135, 19470220, 19474452, 19512959, 19521114, 19523031, 19527514, 19537956, 19575027, 19593158, 19593168, 19593180, 19593802, 19596663, 19597703, 19604081, 19604084, 19604091, 19625176, 19636337, 19651758, 19652678, 19656108, 19660006, 19692168, 19694742, 19702490, 19710640, 19710642, 19715474, 19719813, 19738170, 19761369, 19781968, 1978251, 1978565, 19797609, 19809024, 19823875, 19833260, 19840783, 19866496, 19887477, 19891553, 19892789, 19902987, 19907421, 19910717, 19937844, 19940985, 19946748, 19947517, 19953095, 19954080, 19954746, 19956635, 19995332, 19997080, 20007670, 20009880, 20031551, 20041956, 20075642, 20081063, 20118554, 20124171, 20133509, 20136364, 20137387, 20147896, 20173083, 20174590, 20185366, 20195825, 20201714, 20205348, 20206139, 20225176, 20297661, 20305604, 20309015, 20332423, 20335142, 20350136, 20364044, 20368706, 20373852, 20375710, 20385997, 20421845, 20430047, 20432045, 20435235, 20454926, 20456744, 20459744, 20461808, 20467479, 20473659, 20489028, 20492431, 20515869, 20520586, 20530222, 20531370, 20547595, 20563569, 20565970, 20574415, 20588073, 20590587, 20590588, 20597905, 20599499, 20602615, 20628863, 20634891, 20643254, 20656020, 20656072, 20679960, 20684753, 20686235, 20700584, 20701904, 20727252, 20731819, 20799519, 20809362, 20814331, 20827267, 20828547, 20846929, 20849243, 20851451, 20857895, 20859244, 20863179, 20877299, 20877302, 20878561, 20881950, 20925579, 20970553, 21063774, 21071160, 21072184, 21108610, 21135868, 21140323, 21173786, 21241245, 21248727, 21321564, 21391885, 21430657, 21433154, 21437611, 21449914, 21456632, 21485696, 21486104, 21518482, 21527579, 21543662, 21589866, 21596874, 21599570, 21605066, 21631295, 21677335, 21728792, 21743374, 21749835, 21787170, 21797939, 21803659, 21821735, 21823108, 21826689, 21835244, 21840870, 21860550, 21861665, 21880792, 21907728, 21913948, 21918425, 21956465, 21958961, 21971440, 21989258, 22039821, 22092298, 22109568, 2211621, 22141351, 22159753, 22180068, 22180372, 22198443, 22216145, 22245658, 22277677, 22281432, 22281720, 22301406, 22303032, 22308038, 22324840, 22355045, 22398969, 22399238, 22428763, 22459173, 22497725, 22531512, 22623212, 22623266, 22661184, 22688624, 22700965, 22718526, 22733239, 22735900, 22775532, 22777153, 22803153, 22905959, 22913530, 22929407, 22948856, 22986607, 22994728, 23167378, 23207012, 23212934, 23213055, 23258538, 23277250, 23280482, 23289191, 23292115, 23350374, 23357843, 23394389, 23469064, 23471717, 23503455, 23545896, 23552177, 23555934, 23558964, 23570465, 23609392, 23614566, 23644254, 23664723, 23686417, 23691026, 23700791, 23712329, 23728524, 23733622, 23734807, 23737191, 23781139, 23803265, 23809878, 23831869, 23842856, 23851570, 23855716, 23870808, 23872830, 23876819, 23893861, 23897164, 23922954, 23981149, 23985325, 24033670, 24088126, 24088129, 24088226, 24089073, 24098545, 24107805, 24112176, 24113184, 24121619, 24125101, 24151800, 24151801, 24156754, 24161632, 24192122, 24211060, 24232670, 24257813, 24265036, 24265353, 24279852, 24318876, 24329187, 24329190, 24338437, 24340040, 24376807, 24449363, 24488700, 24495562, 24510399, 24528284, 24533713, 24557547, 24640604, 2466049, 24660534, 24663076, 24682161, 24798722, 24858822, 24865344, 24905532, 24909950, 24948072, 24987171, 25056061, 25113522, 25138301, 25141893, 25217496, 25240994, 25245581, 25261563, 25296365, 25329115, 25329392, 25378122, 25381333, 25437930, 25469868, 25495406, 25495408, 25510856, 25521354, 25552922, 25555909, 25609939, 25701109, 25720195, 2574001, 25743120, 25788121, 25803758, 25823457, 25825958, 25857198, 25868121, 25933954, 25941923, 25943116, 25963137, 25967538, 25989235, 25999696, 26084127, 26211952, 26230381, 26235034, 26252353, 26287939, 26297049, 26298540, 26316040, 26369533, 26434912, 26551314, 26603528, 26652007, 26768225, 26902503, 3123997, 3410476, 7845481, 7868129, 7903454, 7927337, 7951238, 8287064, 8449513, 8530011, 8634695, 8655150, 8971426, 9241659, 9264312, 9890157,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Endoplasmic reticulum, Heme, Iron, Lipid metabolism, Membrane, Metal-binding, Microsome, Monooxygenase, Oxidoreductase, Polymorphism, Proteomics identification, Reference proteome, Signal, Steroid metabolism, Sterol metabolism, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Cytochrome P450 2D6, helix, metal ion-binding site:Iron (heme axial ligand), sequence conflict, sequence variant, strand, turn,
UP_TISSUE Brain, Liver, PCR rescued clones,
4051 cytochrome P450 family 4 subfamily F member 3(CYP4F3) Related Genes Homo sapiens
COG_ONTOLOGY Secondary metabolites biosynthesis, transport, and catabolism,
ENSEMBL_GENE_ID ENSG00000186529,
GAD_DISEASE Asthma, drug-related genes ,
GOTERM_BP_DIRECT icosanoid metabolic process, leukotriene metabolic process, leukotriene B4 catabolic process, oxidation-reduction process,
GOTERM_CC_DIRECT endoplasmic reticulum membrane, integral component of membrane, organelle membrane,
GOTERM_MF_DIRECT monooxygenase activity, iron ion binding, oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, oxygen binding, heme binding, leukotriene-B4 20-monooxygenase activity, alpha-tocopherol omega-hydroxylase activity, 20-hydroxy-leukotriene B4 omega oxidase activity, 20-aldehyde-leukotriene B4 20-monooxygenase activity,
INTERPRO Cytochrome P450, Cytochrome P450, E-class, group I, Cytochrome P450, conserved site,
KEGG_PATHWAY Arachidonic acid metabolism, Metabolic pathways,
OFFICIAL_GENE_SYMBOL cyp4f3,
PFAM Cytochrome P450,
PUBMED_ID 10409674, 11461919, 12477932, 12709424, 14715252, 15128046, 16344560, 16380383, 17980168, 18065749, 18566475, 18577768, 19138970, 19343046, 20047521, 20237496, 21666788, 22706230, 24406470, 8026587, 8486631, 9068972, 9539102,
UP_KEYWORDS Alternative promoter usage, Alternative splicing, Complete proteome, Endoplasmic reticulum, Heme, Iron, Lipid metabolism, Membrane, Metal-binding, Microsome, Monooxygenase, NADP, Oxidoreductase, Polymorphism, Proteomics identification, Reference proteome, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE binding site:Heme (covalent; via 1 link), chain:Leukotriene-B(4) omega-hydroxylase 2, metal ion-binding site:Iron (heme axial ligand), sequence conflict, sequence variant, transmembrane region,
UP_TISSUE Fetal liver, Leukocyte,
317749 dehydrogenase/reductase 4 like 2(DHRS4L2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000187630,
GOTERM_BP_DIRECT oxidation-reduction process,
GOTERM_CC_DIRECT extracellular region,
GOTERM_MF_DIRECT carbonyl reductase (NADPH) activity, oxidoreductase activity,
INTERPRO Glucose/ribitol dehydrogenase, NAD(P)-binding domain, Short-chain dehydrogenase/reductase, conserved site,
KEGG_PATHWAY Retinol metabolism, Metabolic pathways,
OFFICIAL_GENE_SYMBOL DHRS4L2,
PFAM short chain dehydrogenase,
PUBMED_ID 10333503, 12477932, 12508121, 12975309, 14702039, 15473316, 15489334, 16204458, 16344560, 17207965, 17230527, 18754758, 20525226, 23036705, 26186194,
UP_KEYWORDS Alternative splicing, Complete proteome, Glycoprotein, NADP, Oxidoreductase, Polymorphism, Proteomics identification, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE active site:Proton acceptor, binding site:Substrate, chain:Dehydrogenase/reductase SDR family member 4-like 2, glycosylation site:N-linked (GlcNAc...), nucleotide phosphate-binding region:NADP, sequence variant, signal peptide, splice variant,
UP_TISSUE Colon,
113878 deltex E3 ubiquitin ligase 2(DTX2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000091073,
GOTERM_BP_DIRECT Notch signaling pathway, protein ubiquitination,
GOTERM_CC_DIRECT nucleoplasm, cytoplasm, nuclear membrane,
GOTERM_MF_DIRECT protein binding, zinc ion binding, ligase activity,
INTERPRO Zinc finger, RING-type, WWE domain, Zinc finger, RING/FYVE/PHD-type, WWE domain, subgroup, Zinc finger, C3HC4 RING-type,
KEGG_PATHWAY Notch signaling pathway,
OFFICIAL_GENE_SYMBOL DTX2,
PFAM Zinc finger, C3HC4 type (RING finger), WWE domain,
PUBMED_ID 10819331, 11226752, 11564735, 12477932, 12670957, 12853948, 14702039, 15342556, 15489334, 15778465, 16189514, 16344560, 16400609, 16713569, 17286044, 18029348, 19549727, 21516116, 22990118, 24722188, 25416956, 25963833, 7671825, 9847074,
SMART RING, WWE,
UP_KEYWORDS Acetylation, Alternative splicing, Complete proteome, Cytoplasm, Ligase, Metal-binding, Methylation, Notch signaling pathway, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Signal, Ubl conjugation pathway, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Protein deltex-2, domain:WWE 1, domain:WWE 2, modified residue, sequence variant, splice variant, zinc finger region:RING-type,
UP_TISSUE Brain, Lymph, Muscle, Ovary, Thyroid,
1629 dihydrolipoamide branched chain transacylase E2(DBT) Related Genes Homo sapiens
COG_ONTOLOGY Energy production and conversion,
ENSEMBL_GENE_ID ENSG00000137992,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Alzheimer Disease, maple syrup urine disease,
GOTERM_BP_DIRECT metabolic process, branched-chain amino acid catabolic process, glyoxylate metabolic process,
GOTERM_CC_DIRECT mitochondrion, mitochondrial matrix, mitochondrial alpha-ketoglutarate dehydrogenase complex, mitochondrial nucleoid,
GOTERM_MF_DIRECT transferase activity, transferring acyl groups, ubiquitin protein ligase binding, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity,
INTERPRO Biotin/lipoyl attachment, 2-oxoacid dehydrogenase acyltransferase, catalytic domain, 2-oxo acid dehydrogenase, lipoyl-binding site, E3 binding, Single hybrid motif, Lipoamide Acyltransferase, Chloramphenicol acetyltransferase-like domain,
KEGG_PATHWAY Valine, leucine and isoleucine degradation, Metabolic pathways, Biosynthesis of antibiotics,
OFFICIAL_GENE_SYMBOL DBT,
OMIM_DISEASE Maple syrup urine disease, type II,
PFAM 2-oxoacid dehydrogenases acyltransferase (catalytic domain), Biotin-requiring enzyme, e3 binding domain,
PUBMED_ID 11448970, 11509994, 11839747, 12477932, 1420314, 1429740, 14768949, 15489334, 16159877, 16344560, 16861235, 17353931, 17922217, 18029348, 18063578, 18378174, 1847055, 18533943, 1889817, 19167051, 1943690, 19480318, 19615732, 19725078, 1990841, 2001734, 2010537, 20301495, 20570198, 20877624, 21532586, 21642987, 22939629, 23313820, 24244333, 24268812, 24344204, 25147182, 25281560, 25865307, 26186194, 26344197, 26496610, 26549023, 26638075, 2708389, 2742576, 27499296, 2837277, 2932110, 3189339, 3245861, 6895847, 7672509, 7918575, 8430702, 9621512,
UP_KEYWORDS 3D-structure, Acetylation, Acyltransferase, Complete proteome, Direct protein sequencing, Disease mutation, Lipoyl, Maple syrup urine disease, Mitochondrion, Phosphoprotein, Proteomics identification, Reference proteome, Transferase, Transit peptide,
UP_SEQ_FEATURE chain:Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial, domain:Lipoyl-binding, helix, modified residue, sequence conflict, sequence variant, strand, transit peptide:Mitochondrion, turn,
UP_TISSUE Kidney, Skin,
64118 dihydrouridine synthase 1 like(DUS1L) Related Genes Homo sapiens
COG_ONTOLOGY Translation, ribosomal structure and biogenesis,
ENSEMBL_GENE_ID ENSG00000169718,
GOTERM_BP_DIRECT tRNA dihydrouridine synthesis, oxidation-reduction process,
GOTERM_CC_DIRECT cytosol,
GOTERM_MF_DIRECT catalytic activity, tRNA dihydrouridine synthase activity, flavin adenine dinucleotide binding,
INTERPRO tRNA-dihydrouridine synthase, Aldolase-type TIM barrel, tRNA-dihydrouridine synthase, conserved site,
OFFICIAL_GENE_SYMBOL DUS1L,
PFAM Dihydrouridine synthase (Dus),
PIR_SUPERFAMILY tRNA-dihydrouridine synthase,
PUBMED_ID 12477932, 15489334, 26186194,
UP_KEYWORDS Complete proteome, Flavoprotein, FMN, Oxidoreductase, Proteomics identification, Reference proteome, tRNA processing,
UP_SEQ_FEATURE chain:tRNA-dihydrouridine synthase 1-like, modified residue,
UP_TISSUE Brain, Colon, Pancreas, Uterus,
51143 dynein cytoplasmic 1 light intermediate chain 1(DYNC1LI1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000144635,
GOTERM_BP_DIRECT transport, microtubule-based movement, mitotic nuclear division, viral process, cell division, positive regulation of mitotic cell cycle spindle assembly checkpoint,
GOTERM_CC_DIRECT kinetochore, condensed chromosome kinetochore, spindle pole, nucleoplasm, cytoplasm, centrosome, cytoplasmic dynein complex, microtubule, plasma membrane, membrane,
GOTERM_MF_DIRECT microtubule motor activity, protein binding, ATP binding, GTP binding, GDP binding, poly(A) RNA binding, dynein heavy chain binding,
INTERPRO Dynein 1 light intermediate chain, Dynein family light intermediate chain, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Phagosome, Vasopressin-regulated water reabsorption, Salmonella infection,
OFFICIAL_GENE_SYMBOL DYNC1LI1,
PFAM Dynein light intermediate chain (DLIC),
PUBMED_ID 10893222, 11243854, 12477932, 14702039, 15302935, 15345747, 16260502, 16344560, 16565220, 17081983, 18029348, 19229290, 19454010, 19946888, 20026645, 20360068, 20467437, 20964624, 21145461, 21169557, 21399614, 22190034, 22658674, 22863883, 22939629, 22956769, 23383273, 24797263, 25231297, 25272277, 25416956, 25422374, 25921289, 26344197, 26496610, 26638075, 26687479, 27482052, 8125298,
UP_KEYWORDS ATP-binding, Cell cycle, Cell division, Centromere, Chromosome, Complete proteome, Cytoplasm, Cytoskeleton, Dynein, Host-virus interaction, Kinetochore, Microtubule, Mitosis, Motor protein, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transport,
UP_SEQ_FEATURE chain:Cytoplasmic dynein 1 light intermediate chain 1, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant,
UP_TISSUE Cerebellum, Coronary artery, Epithelium, Human testis, Pituitary,
144132 dynein heavy chain domain 1(DNHD1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000179532,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT microtubule-based movement,
GOTERM_CC_DIRECT dynein complex, extracellular exosome,
GOTERM_MF_DIRECT microtubule motor activity,
INTERPRO Dynein heavy chain domain, Dynein heavy chain, domain-2, Dynein heavy chain, coiled coil stalk, Dynein heavy chain, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL DNHD1,
PFAM Dynein heavy chain and region D6 of dynein motor, Dynein heavy chain, N-terminal region 2, Microtubule-binding stalk of dynein motor,
PUBMED_ID 12477932, 12693554, 12975309, 14702039, 15489334, 16344560, 17525332, 19056867, 20379614, 21507953, 22658674, 22990118, 23725790, 25036637, 26460568,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Dynein heavy chain domain 1-like protein, chain:Dynein heavy chain domain-containing protein 1, chain:Uncharacterized protein C11orf47, compositionally biased region:Poly-Leu, modified residue, sequence conflict, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Colon, Spleen, Testis,
1605 dystroglycan 1(DAG1) Related Genes Homo sapiens
BBID 10.Dysdap, 63.LAT_couples_T-cell_receptor, 82.TCR_and_Cap_or_SMAC,
BIOCARTA Agrin in Postsynaptic Differentiation,
ENSEMBL_GENE_ID ENSG00000173402,
GAD_DISEASE bronchopulmonary dysplasia, Crohn Disease|Crohn's disease, Schizophrenia, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT morphogenesis of an epithelial sheet, protein O-linked glycosylation, membrane protein ectodomain proteolysis, NLS-bearing protein import into nucleus, cytoskeletal anchoring at plasma membrane, regulation of gastrulation, regulation of epithelial to mesenchymal transition, calcium-dependent cell-matrix adhesion, regulation of embryonic cell shape, modulation by virus of host morphology or physiology, nerve maturation, myelination in peripheral nervous system, extracellular matrix organization, negative regulation of cell migration, microtubule anchoring, negative regulation of MAPK cascade, response to peptide hormone, viral entry into host cell, negative regulation of protein kinase B signaling, epithelial tube branching involved in lung morphogenesis, branching involved in salivary gland morphogenesis, commissural neuron axon guidance, basement membrane organization, positive regulation of basement membrane assembly involved in embryonic body morphogenesis,
GOTERM_CC_DIRECT extracellular region, basement membrane, extracellular space, nucleoplasm, cytoplasm, cytosol, cytoskeleton, plasma membrane, cell-cell adherens junction, focal adhesion, cell outer membrane, dystrophin-associated glycoprotein complex, dystroglycan complex, membrane, integral component of membrane, basolateral plasma membrane, lamellipodium, filopodium, node of Ranvier, sarcolemma, costamere, membrane raft, postsynaptic membrane, extracellular exosome, contractile ring,
GOTERM_MF_DIRECT virus receptor activity, dystroglycan binding, actin binding, calcium ion binding, protein binding, structural constituent of muscle, tubulin binding, vinculin binding, protein complex binding, SH2 domain binding, laminin-1 binding, alpha-actinin binding,
INTERPRO Dystroglycan-type cadherin-like, Dystroglycan, Immunoglobulin-like fold, Cadherin-like, Alpha-dystroglycan domain 2,
KEGG_PATHWAY ECM-receptor interaction, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy, Viral myocarditis,
OFFICIAL_GENE_SYMBOL DAG1,
OMIM_DISEASE Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9,
PFAM Dystroglycan (Dystrophin-associated glycoprotein 1),
PUBMED_ID 10207021, 10355629, 10684260, 10767429, 10769203, 10903901, 10932245, 10988290, 11342559, 11423118, 11430802, 11495720, 11502221, 11717465, 11724572, 11798066, 12140558, 12177244, 12386278, 12477932, 12592373, 12598319, 12795607, 12920582, 1406935, 15146197, 15175275, 15210115, 15342556, 16254364, 16344560, 16466646, 16502470, 16575202, 16709410, 17005282, 17012237, 17196572, 1741056, 17474147, 17516554, 17628813, 17640712, 17993586, 18087214, 18201566, 18341635, 18456664, 18691338, 18764929, 18939472, 18983465, 19109891, 19199708, 19244252, 19322201, 19348877, 19367581, 19490893, 19531213, 19587235, 19913121, 19946898, 20044576, 20307617, 20338590, 20350218, 20507882, 20512930, 20625412, 20626751, 20628086, 20736308, 21203384, 21255062, 21347376, 21423176, 21741360, 21931648, 21987822, 22082156, 22138543, 22307776, 22405130, 22801424, 22939629, 22964035, 22996647, 23223448, 23376485, 23533145, 23940118, 23951345, 24041696, 24052401, 24077328, 24361964, 24792180, 25082828, 25139094, 25231870, 25503980, 26077903, 26186194, 26344197, 7592992, 7619516, 7744812, 7774920, 7925941, 8017170, 8205617, 8268918, 8798547, 8996823, 9153251, 9169421, 9417121, 9851927, 9851928,
SMART CADG,
UP_KEYWORDS 3D-structure, Autocatalytic cleavage, Cell junction, Cell membrane, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Disulfide bond, Dystroglycanopathy, Glycoprotein, Host cell receptor for virus entry, Host-virus interaction, Limb-girdle muscular dystrophy, Lissencephaly, Membrane, Nucleus, Phosphoprotein, Polymorphism, Postsynaptic cell membrane, Proteomics identification, Receptor, Reference proteome, Secreted, Signal, Synapse, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Alpha-dystroglycan, chain:Beta-dystroglycan, disulfide bond, domain:Peptidase S72, glycosylation site:N-linked (GlcNAc...), glycosylation site:O-linked (Xyl...) (glycosaminoglycan), sequence conflict, sequence variant, signal peptide, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Muscle, Placenta, Skeletal muscle,
79631 elongation factor like GTPase 1(EFL1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000140598,
GAD_DISEASE Carotid Artery Diseases|Plaque, Atherosclerotic, Myocardial Infarction,
GOTERM_BP_DIRECT translation, mature ribosome assembly,
GOTERM_CC_DIRECT intracellular,
GOTERM_MF_DIRECT GTPase activity, GTP binding, ribosome binding,
INTERPRO Translation elongation factor EFG, V domain, Elongation factor, GTP-binding domain, Small GTP-binding protein domain, Translation elongation/initiation factor/Ribosomal, beta-barrel, Elongation factor G, III-V domain, Ribosomal protein S5 domain 2-type fold, subgroup, Ribosomal protein S5 domain 2-type fold, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Ribosome biogenesis in eukaryotes,
OFFICIAL_GENE_SYMBOL EFL1,
PFAM Elongation factor G C-terminus, Elongation Factor G, domain II,
PUBMED_ID 11329013, 12477932, 14702039, 16344560, 20531441, 20966410, 21536732, 22863883, 23898208, 25015090, 25921289, 26186194, 26344197, 26479198, 26496610,
SMART SM00838,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Complete proteome, Elongation factor, GTP-binding, Nucleotide-binding, Polymorphism, Protein biosynthesis, Proteomics identification, Reference proteome, Ribosome biogenesis,
UP_SEQ_FEATURE chain:Elongation factor Tu GTP-binding domain- containing protein 1, modified residue, nucleotide phosphate-binding region:GTP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Fetal brain,
283849 exocyst complex component 3 like 1(EXOC3L1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000179044,
GAD_DISEASE Coronary Disease, Lipoproteins, HDL,
GOTERM_BP_DIRECT exocytosis, peptide hormone secretion, exocyst localization,
GOTERM_CC_DIRECT exocyst, transport vesicle, secretory granule,
GOTERM_MF_DIRECT SNARE binding,
INTERPRO Exocyst complex component Sec6,
OFFICIAL_GENE_SYMBOL EXOC3L1,
PFAM Exocyst complex component Sec6,
PUBMED_ID 12477932, 14702039, 16344560, 18480549, 21347282, 26199122,
UP_KEYWORDS Coiled coil, Complete proteome, Cytoplasmic vesicle, Exocytosis, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Exocyst complex component 3-like protein, sequence conflict, sequence variant,
UP_TISSUE Small intestine, Spleen,
338094 family with sequence similarity 151 member A(FAM151A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000162391,
GAD_DISEASE Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_CC_DIRECT membrane, integral component of membrane, extracellular exosome,
INTERPRO Protein of unknown function DUF2181,
OFFICIAL_GENE_SYMBOL fam151a,
PFAM Uncharacterized conserved protein (DUF2181),
PUBMED_ID 12477932, 12975309, 14702039, 16344560, 17273976, 19056867, 19913121, 20379614, 20628086, 21832049, 23376485, 23533145,
UP_KEYWORDS Alternative splicing, Complete proteome, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Protein FAM151A, sequence conflict, sequence variant, splice variant, transmembrane region,
UP_TISSUE Colon, Kidney,
90050 family with sequence similarity 181 member A(FAM181A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000140067,
OFFICIAL_GENE_SYMBOL FAM181A,
PFAM FAM181,
PUBMED_ID 12477932, 14702039, 15489334, 16344560, 18029348,
UP_KEYWORDS Alternative splicing, Complete proteome, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Protein FAM181A, sequence conflict, sequence variant, splice variant,
UP_TISSUE Hippocampus, Ovary, Testis,
253725 family with sequence similarity 21 member C(FAM21C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000172661,
GOTERM_BP_DIRECT protein transport, retrograde transport, endosome to Golgi, regulation of substrate adhesion-dependent cell spreading, retrograde transport, endosome to plasma membrane, negative regulation of barbed-end actin filament capping,
GOTERM_CC_DIRECT nucleolus, cytoplasm, endosome, early endosome, cytosol, plasma membrane, retromer complex, early endosome membrane, intracellular membrane-bounded organelle, WASH complex,
GOTERM_MF_DIRECT protein binding, phosphatidylinositol-4,5-bisphosphate binding, phosphatidylinositol-3,4,5-trisphosphate binding, phosphatidylinositol-5-phosphate binding, phosphatidylinositol-3-phosphate binding, phosphatidylinositol-3,4-bisphosphate binding, phosphatidylinositol-4-phosphate binding, phosphatidylinositol-3,5-bisphosphate binding,
INTERPRO WASH complex subunit FAM21,
KEGG_PATHWAY Endocytosis,
OFFICIAL_GENE_SYMBOL FAM21C,
PFAM WASH complex subunit CAP-Z interacting, central region,
PUBMED_ID 12477932, 14702039, 15144186, 15146197, 15164054, 15302935, 15489334, 15847701, 16344560, 16713569, 16964243, 17081983, 18550675, 19922874, 19922875, 20139978, 20357771, 20360068, 20498093, 20827171, 20923837, 22070227, 22513087, 22939629, 23331060, 24643499, 25278552, 25355947, 25431135, 26186194, 26496610, 26638075, 27385586, 9628581,
UP_KEYWORDS Alternative splicing, Cell membrane, Complete proteome, Endosome, Lipid-binding, Membrane, Phosphoprotein, Protein transport, Proteomics identification, Reference proteome, Transport,
UP_SEQ_FEATURE chain:Putative WASH complex subunit FAM21, chain:WASH complex subunit FAM21C, compositionally biased region:Glu-rich, compositionally biased region:Poly-Ala, compositionally biased region:Poly-Asp, modified residue, sequence conflict, splice variant,
UP_TISSUE Brain, Epithelium, Kidney, Lung, Platelet, T-cell,
140876 family with sequence similarity 65 member C(FAM65C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000042062,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_CC_DIRECT cytoplasm,
INTERPRO Protein FAM65,
OFFICIAL_GENE_SYMBOL FAM65C,
PUBMED_ID 11780052, 12107410, 14702039, 15146197, 15197164, 20877624,
UP_KEYWORDS Alternative splicing, Complete proteome, Phosphoprotein, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Protein FAM65C, sequence conflict, sequence variant, splice variant,
UP_TISSUE Placenta, Spleen,
64319 fibrosin(FBRS) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000156860,
GOTERM_BP_DIRECT positive regulation of fibroblast proliferation,
GOTERM_CC_DIRECT extracellular space,
GOTERM_MF_DIRECT growth factor activity,
INTERPRO Autism susceptibility gene 2 protein,
OFFICIAL_GENE_SYMBOL FBRS,
PUBMED_ID 10493891, 11733950, 12477932, 14702039, 15489334, 16344560, 17083929, 22325352, 23455922, 24457600, 24550385, 24778252, 24999758, 25281560, 25519132, 25852190, 26186194, 26496610, 26673895, 7892239, 8889549, 9809749,
UP_KEYWORDS Alternative splicing, Complete proteome, Methylation, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Probable fibrosin-1 long transcript protein, compositionally biased region:Ala-rich, compositionally biased region:Pro-rich, modified residue, sequence conflict, splice variant,
UP_TISSUE B-cell, Embryo,
2312 filaggrin(FLG) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000143631,
GAD_DISEASE Arthritis, Rheumatoid|Rheumatoid Arthritis, Asthma, asthma eczema, Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate, Asthma|Dermatitis, Atopic|, Asthma|Dermatitis, Atopic|Eczema|Hypersensitivity, Immediate|Respiratory Sounds, Asthma|Dermatitis, Atopic|Eczema|Rhinitis, Allergic, Seasonal, Asthma|Dermatitis, Atopic|Rhinitis, Allergic, Seasonal, Asthma|Eczema|, Asthma|Eczema|Food Hypersensitivity, Asthma|Eczema|Hypersensitivity, Immediate|Rhinitis, Allergic, Seasonal, Asthma|Eczema|Rhinitis, Allergic, Seasonal, atopic dermatitis, Body Mass Index, Body Weight, dermatitis and eczema, dermatitis and eczema ichthyosis vulgaris, Dermatitis, Allergic Contact, Dermatitis, Allergic Contact|Hand Dermatoses, Dermatitis, Allergic Contact|Hypersensitivity|Hypersensitivity, Immediate|Ichthyosis Vulgaris, Dermatitis, Atopic, Dermatitis, Atopic|, Dermatitis, Atopic|Eczema allergic, Dermatitis, Atopic|Eczema|Eczema allergic|Hand Dermatoses, Dermatitis, Atopic|Ichthyosis Vulgaris, Dermatitis, Atopic|Kaposi Varicelliform Eruption, Dermatitis, Contact|Hand Dermatoses, Dermatitis, Irritant|Dermatitis, Occupational|, Eczema, Exploratory Behavior, hearing loss, humoral responses to early food allergens in children, Hypersensitivity, Ichthyosis, Ichthyosis Vulgaris, inflammatory bowel disease , longevity, null, Psoriasis, skin condition,
GOTERM_BP_DIRECT multicellular organism development, keratinocyte differentiation, establishment of skin barrier,
GOTERM_CC_DIRECT nucleus, intermediate filament, keratohyalin granule, intracellular membrane-bounded organelle,
GOTERM_MF_DIRECT structural molecule activity, calcium ion binding, protein binding,
INTERPRO S100/Calbindin-D9k, conserved site, EF-hand domain, Filaggrin, EF-hand-like domain, S100/CaBP-9k-type, calcium binding, subdomain, EF-Hand 1, calcium-binding site,
OFFICIAL_GENE_SYMBOL FLG,
OMIM_DISEASE Ichthyosis vulgaris, Dermatitis, atopic, susceptibility to, 2,
PFAM S-100/ICaBP type calcium binding domain, Filaggrin,
PUBMED_ID 11279517, 11380615, 12230510, 12838398, 12850301, 1429717, 15675958, 16261374, 16444271, 16550169, 16570058, 16710414, 16810297, 16815158, 16990802, 17008875, 17096018, 17195011, 17255953, 17291859, 17301831, 17380114, 17410197, 17417636, 17502856, 17531295, 17581619, 17657246, 17684752, 17704059, 17704064, 17970802, 17980411, 17989887, 18005116, 18007582, 18032906, 18049447, 18068483, 18073125, 18094728, 18172455, 18176743, 18193244, 18200065, 18239616, 18305568, 18307574, 18313126, 18325573, 18384254, 18385759, 18396323, 18420385, 18521703, 18565177, 18578563, 18620134, 18637008, 18760831, 18769192, 18774391, 18818676, 18843291, 18976374, 18987673, 19037238, 19134432, 19183181, 19239468, 19247692, 19348926, 19408338, 19492053, 19501237, 19515043, 19538184, 19538357, 19550302, 19589816, 19601982, 19601998, 19602001, 19615732, 19663875, 19681860, 19720210, 19733298, 19785597, 19804695, 19839980, 19863505, 19874431, 19958351, 20016199, 20028371, 20109745, 20132155, 20149601, 20159264, 20179351, 20208004, 20222934, 20230798, 20346018, 20426775, 2043621, 20445547, 20500796, 20513523, 20573035, 20621340, 20629673, 20686498, 20800603, 20814636, 20865458, 20943104, 20962854, 20975288, 21039602, 21074596, 21137118, 21145461, 21166815, 21219289, 21255094, 21261659, 21289640, 21326297, 21365004, 21410766, 21426411, 21434976, 21496060, 21501248, 21514438, 21518425, 21576945, 21630459, 21666691, 21692775, 21701148, 21723775, 21777221, 21790526, 21800051, 21923666, 21923691, 21945601, 21983738, 21991953, 21999178, 22030464, 22071473, 22088612, 22158554, 22177328, 22182180, 22220561, 22229441, 22288457, 22299762, 22322004, 22360978, 22381027, 22403702, 22407025, 22418870, 2248957, 22612618, 22622429, 22635822, 22742591, 22897780, 22903496, 22921868, 22951058, 22960809, 22962861, 22964107, 22989708, 23039796, 23063684, 23078034, 23152869, 23154627, 23166590, 23273645, 23290076, 23297869, 23301728, 23343419, 23403047, 23421459, 23443559, 23460889, 23537643, 23548340, 23568457, 23601069, 23622014, 23629652, 23645350, 23657503, 23684069, 23744309, 23814674, 23848345, 23867897, 23886662, 23927042, 23947670, 24054371, 24061166, 24102300, 24111531, 24157460, 24247645, 24251354, 24369804, 24401911, 24457600, 24521637, 24565632, 24628370, 24629053, 24708301, 24726196, 24813994, 24819286, 24858702, 24880632, 24905740, 24912553, 24920311, 24940654, 25065719, 25086748, 25174864, 25230061, 25277085, 25282568, 25314673, 25324306, 25383447, 25390410, 25528737, 25564772, 25581911, 25620092, 25659224, 25660180, 25678087, 25712346, 25734812, 25747786, 25757221, 25776938, 2579164, 25816564, 25863977, 26026341, 26071937, 26186194, 26282804, 26381575, 26472199, 26830116, 27012026, 2740331, 4132224, 6174530, 8270625, 8417356, 8780679, 9886436,
SMART SM01394,
UP_KEYWORDS 3D-structure, Calcium, Citrullination, Coiled coil, Complete proteome, Developmental protein, Direct protein sequencing, Ichthyosis, Metal-binding, Phosphoprotein, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:filaggrin, compositionally biased region:Poly-Tyr, compositionally biased region:Ser-rich, domain:EF-hand 1, domain:EF-hand 2, modified residue, repeat:Filaggrin 1, repeat:Filaggrin 10, repeat:Filaggrin 11, repeat:Filaggrin 12, repeat:Filaggrin 13, repeat:Filaggrin 14, repeat:Filaggrin 15, repeat:Filaggrin 16, repeat:Filaggrin 17, repeat:Filaggrin 18, repeat:Filaggrin 19, repeat:Filaggrin 2, repeat:Filaggrin 20, repeat:Filaggrin 21, repeat:Filaggrin 22, repeat:Filaggrin 23, repeat:Filaggrin 3, repeat:Filaggrin 4, repeat:Filaggrin 5, repeat:Filaggrin 6, repeat:Filaggrin 7, repeat:Filaggrin 8, repeat:Filaggrin 9, sequence conflict, sequence variant,
UP_TISSUE Brain, Epidermal, Epithelium, Foreskin, Placenta,
2525 fucosyltransferase 3 (Lewis blood group)(FUT3) Related Genes Homo sapiens
BBID 57.Post-Golgi&endo_trans_MHC_class_II,
ENSEMBL_GENE_ID ENSG00000171124,
GAD_DISEASE Asthma, atherosclerotic disease, atherothrombotic disease, Breast Cancer, Cardiovascular Diseases|, carotid atherosclerosis, Cystic Fibrosis|Pseudomonas Infections, gastritis, chronic atrophic, H. pylori infection, H. pylori infection; stomach cancer, H. pylori infection; stomach cancer; peptic ulcer, Helicobacter pylori infection, Le(b) antigen, non-secretor status, Norovirus infection, null, Obesity, smoking, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT protein glycosylation, protein N-linked glycosylation, oligosaccharide biosynthetic process, cell-cell recognition, fucosylation, L-fucose catabolic process, macromolecule glycosylation,
GOTERM_CC_DIRECT Golgi membrane, Golgi apparatus, membrane, integral component of membrane, Golgi cisterna membrane, extracellular exosome,
GOTERM_MF_DIRECT fucosyltransferase activity, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity, alpha-(1->3)-fucosyltransferase activity,
INTERPRO Glycosyl transferase, family 10,
KEGG_PATHWAY Glycosphingolipid biosynthesis - lacto and neolacto series, Metabolic pathways,
OFFICIAL_GENE_SYMBOL FUT3,
OMIM_DISEASE Blood group, Lewis,
PFAM Glycosyltransferase family 10 (fucosyltransferase),
PUBMED_ID 10089211, 10394050, 10816554, 11535550, 11668626, 11698403, 11819805, 12164325, 12424536, 12477932, 12493760, 12668675, 12673421, 12730721, 14687237, 14977360, 15331092, 15338364, 15489334, 15639865, 15639866, 15832169, 16008680, 16097066, 16168124, 16199102, 16239964, 16344560, 16427187, 16800951, 17054072, 17383304, 1740457, 18205178, 18803289, 18953356, 18974842, 18977761, 19137814, 19169360, 19175549, 19199708, 19349624, 19572973, 19715603, 1977660, 19913121, 20003467, 20179215, 20197723, 20514537, 20605574, 20628086, 20833389, 21203500, 21542140, 21978830, 23922852, 23958938, 24720527, 24941225, 26321244, 26663064, 26766790, 7650030, 7656588, 7916594, 7961897, 8063716, 8219240, 8240322, 8240337, 8801770, 8889548, 8943285, 9268337, 9703429,
UP_KEYWORDS Blood group antigen, Complete proteome, Glycoprotein, Glycosyltransferase, Golgi apparatus, Membrane, Polymorphism, Proteomics identification, Reference proteome, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Galactoside 3(4)-L-fucosyltransferase, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Blood, Colon, Liver, Lung, Rectum, Small intestine, Squamous cell carcinoma,
116443 glutamate ionotropic receptor NMDA type subunit 3A(GRIN3A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000198785,
GAD_DISEASE Alzheimer's disease , Carcinoma, Squamous Cell|Esophageal Neoplasms, Citalopram/adverse effects*, prefrontal cortex activity, Schizophrenia, several psychiatric disorders, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone, Weight Gain,
GOTERM_BP_DIRECT calcium ion transport, dendrite development, ionotropic glutamate receptor signaling pathway, response to ethanol, prepulse inhibition, calcium ion transmembrane transport,
GOTERM_CC_DIRECT plasma membrane, postsynaptic density, membrane, integral component of membrane, NMDA selective glutamate receptor complex, cell junction, neuron projection, neuronal cell body, synapse, postsynaptic membrane,
GOTERM_MF_DIRECT ionotropic glutamate receptor activity, NMDA glutamate receptor activity, extracellular-glutamate-gated ion channel activity, calcium channel activity, protein binding, glycine binding, identical protein binding, protein phosphatase 2A binding,
INTERPRO Ionotropic glutamate receptor, NMDA receptor, Glutamate receptor, L-glutamate/glycine-binding,
KEGG_PATHWAY cAMP signaling pathway, Neuroactive ligand-receptor interaction, Glutamatergic synapse, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism,
OFFICIAL_GENE_SYMBOL GRIN3A,
PFAM Ligand-gated ion channel, Ligated ion channel L-glutamate- and glycine-binding site,
PUBMED_ID 10197777, 10448428, 10555109, 11160393, 11483648, 11588171, 11606043, 11735224, 11853319, 11880201, 12391275, 12414113, 12477932, 12775422, 14644469, 14684485, 14760703, 15749123, 16481105, 16489129, 17047094, 17082780, 17214563, 17320117, 17502428, 17617428, 17658481, 17997397, 18075478, 18239623, 18296432, 18445116, 18649358, 19086053, 19156168, 19295509, 19386922, 19488045, 19526283, 19665356, 19913121, 20016182, 20084518, 20379614, 20628086, 21135540, 21152063, 21429969, 21491143, 21948112, 22114277, 22552781, 22801082, 22914463, 22940423, 23237318, 23251661, 23400010, 23852340, 23870195, 24086760, 24278430, 24332987, 24386575, 24739951, 25017909, 25041634, 25450229, 26265699, 7569905, 7695237, 8563977, 8581564, 8724036, 8804048, 8821747, 8822372, 8845955, 8955056, 9620802, 9651389, 9745929,
SMART PBPe, SM00918,
UP_KEYWORDS Calcium, Cell junction, Cell membrane, Coiled coil, Complete proteome, Glycoprotein, Ion channel, Ion transport, Ligand-gated ion channel, Magnesium, Membrane, Polymorphism, Postsynaptic cell membrane, Receptor, Reference proteome, Signal, Synapse, Transmembrane, Transmembrane helix, Transport,
UP_SEQ_FEATURE chain:Glutamate [NMDA] receptor subunit 3A, glycosylation site:N-linked (GlcNAc...), region of interest:PPP2CB binding site, sequence conflict, sequence variant, signal peptide, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain,
84074 glutamine rich 2(QRICH2) Related Genes Homo sapiens
COG_ONTOLOGY DNA replication, recombination, and repair,
ENSEMBL_GENE_ID ENSG00000129646,
PUBMED_ID 11230166, 12477932, 17353931, 23263486,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Glutamine-rich protein 2, compositionally biased region:Gln-rich, sequence variant, splice variant,
UP_TISSUE Testis,
2944 glutathione S-transferase mu 1(GSTM1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000134184,
GAD_DISEASE 1,3-butadiene, 1-hydroxypyrene, urinary, 1-hydroxypyrene, urinary; 2-naphtol, 1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary, 1-hyrdoxypyrene glucuronide concentrations, 2-hydroxyethyl mercapturic acid, 2-thiothiazolidine-4-carboxylic acid levels, Abnormalities, Drug-Induced|Cleft Lip|Cleft Palate, Abortion, Habitual, acrylamide, Acute Lung Injury|Respiratory Distress Syndrome, Adult, acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma, acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma, adenocarcinoma, Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms, Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|, Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm, Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma, Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma, Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma, Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Mouth Neoplasms|Neoplasm of lung |Squamous cell carcinoma|Stomach Neoplasms, Adenocarcinoma|Colorectal Neoplasms, Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms, Adenocarcinoma|Lung Neoplasms|Neoplasm of lung , Adenocarcinoma|ovarian neoplasm|Ovarian Neoplasms, Adenocarcinoma|Stomach Neoplasms, Adenocarcinoma|Uterine Cervical Neoplasms, Adenoma, Oxyphilic|thyroid neoplasm|Thyroid Neoplasms, Adenomatous Polyposis Coli|Colorectal Neoplasms, Adenomatous Polyposis Coli|Duodenal Neoplasms, Adenoma|Carcinoma|Colorectal Neoplasms, Adenoma|Colorectal Neoplasms, Adenoma|Colorectal Neoplasms|, Adenoma|Pituitary Neoplasms, Adenoma|Rectal Neoplasms, aflatoxin-albumin, aflatoxin-related hepatocarcinogenesis, Aging/ Telomere Length, Airway Remodeling, alcohol, alcohol abuse, Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder, Alcoholic Liver Diseases|Liver Diseases, Alcoholic, Alcoholism|Head and Neck Neoplasms, Alcoholism|Liver Cirrhosis, Alcoholic, Alcoholism|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic, Alcoholism|Liver Cirrhosis|Liver Cirrhosis, Alcoholic, Alcoholism|Stomach Neoplasms, Alzheimer's Disease, Amphetamine-Related Disorders, anemia, Anemia, Aplastic|Aplastic anemia, Aneuploidy|Chromosome Aberrations|Chromosome abnormality|Trisomy, aplastic anemia, acquired, arsenic, arsenic metabolism, Arsenic Poisoning, Arsenic Poisoning|Skin Diseases, arsenic toxicity, arsnic exposure, Arthritis, Juvenile Rheumatoid|Disease Susceptibility, Arthritis, Rheumatoid, Arthritis, Rheumatoid|Rheumatoid Arthritis, arthritis; osteoarthritis, asbestos-associated pulmonary disorders, Asbestosis, Ascorbic Acid Deficiency, Asphyxia Neonatorum, Asthma, Asthma|, Asthma|Bronchial Hyperreactivity, Asthma|Hypersensitivity, Asthma|Nasal Polyps, Astrocytoma|Brain Neoplasms, Astrocytoma|Brain Neoplasms|Ependymoma|Glioma|Neoplasm Metastasis|oligodendroglioma, atherosclerosis, Atherosclerosis|Cerebral Infarction, Atrophy|Helicobacter Infections, autism, azathioprine adverse effects, Balkan Nephropathy, Barrett Esophagus|Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis, Barrett's esophagus, Behcet Syndrome, benzene toxicity, beta Thalassemia|beta-Thalassemia|Cardiomyopathies|Iron Overload, beta Thalassemia|beta-Thalassemia|Hepatic Veno-Occlusive Disease, BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary, Birth Weight, Birth Weight|Chromosome Aberrations|Chromosome abnormality|DNA Damage|Tobacco Use Disorder, Birth Weight|Fetal Growth Retardation, Birth Weight|Prenatal Exposure Delayed Effects, Birth Weight|Respiratory Distress Syndrome, Newborn, Black carbon exposure, Bladder Cancer, Bladder Neoplasm|Neoplasms, Prostatic|Prostatic Neoplasms|Urinary Bladder Neoplasms, Bladder Neoplasm|Urinary Bladder Neoplasms, Body Weight, Bone Density, Bone Marrow Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus, brain cancer, Brain Ischemia, Brain Ischemia|Cerebrovascular Disorders, Brain Neoplasms, Brain Neoplasms|Glioma, Brain Neoplasms|Glioma|oligodendroglioma, Brain Neoplasms|Kidney Diseases|Leukemia|Neurotoxicity Syndromes, Breast Cancer, breast cancer , breast cancer susceptibility, breast cancer; thiopurine methyltransferase activity, breast carcinoma, Breast Neoplasms|Carcinoma|Mammary Neoplasms|Neoplasm Invasiveness, Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Mammary Neoplasms|Neoplasm of lung |Neoplasms|ovarian neoplasm|Ovarian Neoplasms|Stomach Neoplasms, Breast Neoplasms|Lung Neoplasms|Mammary Neoplasms|Neoplasm of lung , Brill-Symmers disease|Lymphoma, Follicular, bronchitis; pneumonia, busulfan , Cancer, cancer susceptibility, Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Postoperative Complications|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma, Carcinoma, Basal Cell|Skin Neoplasms, Carcinoma, Hepatocellular|Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Neoplasms, Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|LCC - Liver cell carcinoma|Liver neoplasms, Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms, Carcinoma, Hepatocellular|Liver Diseases|Liver Neoplasms, Carcinoma, Hepatocellular|Liver Neoplasms, Carcinoma, Papillary, Follicular|Papillary and follicular adenocarcinoma|thyroid neoplasm|Thyroid Neoplasms, Carcinoma, Papillary|Thyroid Neoplasms, Carcinoma, Renal Cell|Kidney Neoplasms, Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma, Carcinoma, Squamous Cell|Cervical Neoplasm|Papillomavirus Infections|Squamous cell carcinoma|Uterine Cervical Neoplasms, Carcinoma, Squamous Cell|Chromosome Breakage|Head and Neck Neoplasms, Carcinoma, Squamous Cell|Chromosome Breakage|Head and Neck Neoplasms|Neoplasms, Second Primary|Squamous cell carcinoma, Carcinoma, Squamous Cell|Chromosome Deletion|Head and Neck Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Esophageal Neoplasms|Flushing|Oesophageal neoplasm|Squamous cell carcinoma, Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma, Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms, Carcinoma, Squamous Cell|Head and Neck Neoplasms, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Hypopharyngeal Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Squamous cell carcinoma, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Multiple Primary|Respiratory Tract Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary, Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma, Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Squamous cell carcinoma, Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Mouth Neoplasms, Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis, Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms, Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma, Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder, Carcinoma, Squamous Cell|Mouth Neoplasms|Tobacco Use Disorder, Carcinoma, Transitional Cell|Urinary Bladder Neoplasms, Carcinoma, Transitional Cell|Urologic Neoplasms, Carcinoma|Oropharyngeal Neoplasms|Tumor of Oropharynx, Cardiovascular Diseases|Micronuclei, Chromosome-Defective, Cataract, Cell Transformation, Neoplastic|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms, Cell Transformation, Neoplastic|Chronic ulcerative colitis|Colitis, Ulcerative, Cell Transformation, Neoplastic|DNA Damage|Lung Neoplasms|Neoplasm of lung , Cerebellar Neoplasms|Medulloblastoma, cervical cancer, Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms, Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Uterine Cervical Neoplasms, Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms, Cervical Neoplasm|Uterine Cervical Neoplasms, chemical-related sensitivity, chemotherapy toxicity, childhood asthma., cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;, Chromosome Aberrations, Chromosome Aberrations|Chromosome abnormality, Chromosome Aberrations|Chromosome abnormality|Chromosome Deletion|Translocation, Genetic, Chromosome Aberrations|Chromosome abnormality|DNA Damage, Chromosome Aberrations|Chromosome abnormality|Micronuclei, Chromosome-Defective|Radiation Injuries, Chromosome Aberrations|DNA Damage, Chromosome Aberrations|Neoplasms, chromosome damage DNA damage, Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell, Chronic Kidney Insufficiency|Diabetic Nephropathies|Diabetic Nephropathy|Renal Insufficiency, Chronic, chronic obstructive pulmonary disease, chronic obstructive pulmonary disease/COPD, Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Hypertension|Kidney Failure, Chronic, Chronic renal failure|Kidney Failure, Chronic, chronic toxic encephalopathy, Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases, cleft lip with cleft palate cleft lip without cleft palate, cleft lip with cleft palate; cleft lip without cleft palate, Cleft Lip|Cleft Palate, Cleft Lip|Cleft Palate|, Cleft Lip|Cleft Palate|Congenital Abnormalities, Cleft Lip|Cleft Palate|Prenatal Exposure Delayed Effects, Cleft Palate, Cocarcinogenesis|Colorectal Neoplasms, Cocarcinogenesis|Stomach Neoplasms, cognitive ability, cognitive trait, coke-oven toxicity, Colon Cancer, Colonic Neoplasms, Colonic Neoplasms|Microsatellite Instability, Colorectal Cancer, colorectal cancer stomach cancer, colorectal cancer; esophageal cancer, COPD | Chronic obstructive Pulmonary Disease, Coronary Artery Disease, Coronary Artery Disease|, Coronary Artery Disease|Disease Susceptibility, Coronary Artery Disease|Myocardial Infarction, Coronary Disease, Coronary Disease|, Coronary Disease|Coronary heart disease, Coronary Disease|Coronary heart disease|Diabetes mellitus|Inflammation, Crohn's disease, cyclophosphamide pharmacokinetics, CYP1A1 levels in lung tissue, Cystic Fibrosis, cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD, Cystic Fibrosis|DNA Damage, Cystic Fibrosis|Pseudomonas Infections, cytogenetic studies, Decreased lung function, Depression, Dermatitis, Allergic Contact|Dermatitis, Occupational, Dermatitis, Atopic|, Dermatitis, Atopic|Eczema allergic, Dermatitis, Atopic|Eczema allergic|Prenatal Exposure Delayed Effects, Diabetes Mellitus, Diabetes mellitus type II|Diabetes Mellitus, Type 2, Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1, diabetes, type 1 , diabetes, type 2, diabetes, type 2; liver disease, Diabetic Nephropathies|Diabetic Nephropathy, diabetic nephropathy, diabetic neuropathy, diet effects, Disease Susceptibility|Stomach Neoplasms, DNA adducts, DNA damage, DNA damage associated with exposure to air pollution, DNA damage, biomarkers of, DNA Damage|, DNA Damage|Ehlers-Danlos Syndrome|, DNA Damage|Glaucoma, Open-Angle|Mitochondrial Diseases, DNA Damage|Head and Neck Neoplasms, DNA Damage|Lung Neoplasms|Neoplasm of lung , DNA Damage|Melanoma, DNA Damage|Micronuclei, Chromosome-Defective, DNA Damage|Myocardial Infarction, DNA Damage|Neoplasms, DNA Damage|Neoplasms|Skin Diseases, DNA strand breakage, docetaxel pharmacokinetics docetaxel toxicity, Down Syndrome|Ehlers-Danlos Syndrome, Down's syndrome, Drug Eruptions, Drug Toxicity|Hematologic Neoplasms|Radiation Injuries, Drug-Induced Liver Injury, Drug-Induced Liver Injury, Chronic, Drug-Induced Liver Injury|, Drug-Induced Liver Injury|Epilepsy|Hepatitis, Toxic, Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases, Drug-Induced Liver Injury|Hepatitis, Toxic, Drug-Induced Liver Injury|Hepatitis, Toxic|Tuberculosis, Pulmonary, Drug-Induced Liver Injury|Liver Diseases, Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Drug-Induced Liver Injury|Tuberculosis, Drug-Induced Liver Injury|Tuberculosis, Pulmonary, drug-related genes , Dyskinesia, Drug-Induced|, Dyslipidemias|Hypertension, Dysmenorrhea, Dyspepsia|Peptic Ulcer|Stomach Neoplasms, Eclampsia|HELLP Syndrome|Pre-Eclampsia, Elers-Danlose syndrome, Emphysema, Emphysema|Pulmonary Disease, Chronic Obstructive, encephalopathy, solvent-induced, Endometrial Neoplasms, Endometriosis, Endometriosis|Leiomyoma|Neoplasms, Hormone-Dependent|Uterine Neoplasms, epilepsy, Erythema|Sunburn, esophageal and gastric cardia cancer, Esophageal Atresia, Esophageal Cancer, esophageal cancer , esophageal carcinoma, Esophageal Neoplasms|Neoplasms, Squamous Cell|Oesophageal neoplasm, Esophageal Neoplasms|Oesophageal neoplasm, Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms, Esophagitis, Peptic|Helicobacter Infections|Peptic Esophagitis, Ethmoid Intestinal-type Adenocarcinoma, Exfoliation Syndrome|Glaucoma, Exfoliation Syndrome|Glaucoma, Open-Angle, exposure to 1,3-butadiene, Eye Diseases|Hypersensitivity|Respiratory Tract Diseases, Fanconi Anemia|Fanconi's Anemia|Hematologic Diseases, Fatty Liver, Alcoholic, Fatty Liver|, Fetal Growth Retardation, formaldehyde, gallbladder cancer, gastric cancer, gastric disease, Gastritis|Stomach Neoplasms, Gastrointestinal Neoplasms|Nervous System Diseases, Genetic Predisposition to Disease, Genital Diseases, Female, Genomic Instability|Mesothelioma|Pleural Neoplasms, Germinoma|Testicular Neoplasms, Glaucoma, Open-Angle, Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension, glaucoma, primary open-angle, Glioma, global gene expression, GLOMERULONEPHRITIS MEMBRANOUS|Glomerulonephritis, Membranous, glutathione S-transferase, Graft vs Host Disease|Hemoglobinopathies, Graft vs Host Disease|Recurrence, Graves disease, GSTM1 methylation infertility, male, Haematological Neoplasias, head and neck cancer, head and neck cancer; benzene toxicity, Head and Neck Neoplasms, Head and Neck Neoplasms|Neoplasms, Multiple Primary, head and neck squamous cell carcinoma , Hearing Disorders|Hearing Loss, High-Frequency|Hearing problem, hearing impairment|Hearing Loss, hearing impairment|Hearing Loss|Neoplasms, Testis|Testicular Neoplasms, hearing loss, Hearing Loss, Noise-Induced, Hearing Loss, Sensorineural|Hearing Loss, Sudden, Helicobacter Infections|Stomach Neoplasms, Hepatic Veno-Occlusive Disease, Hepatitis B, Chronic|Liver Cirrhosis, hepatitis B; cirrhosis; liver cancer, Hepatitis B|Hepatitis, Chronic|Liver Cirrhosis, hepatitis C, chronic, hepatitis, autoimmune, hepatocellular carcinoma, high inducibility of cytochrome P450 1A1 gene transcription, HIV Infections, Hodgkin Disease, Hodgkin Disease|Neoplasms, Radiation-Induced, Hodgkin's disease, Hodgkin's disease; non-Hodgkin's lymphoma, Human Longevity, Hypersensitivity|Inflammation|Respiratory Hypersensitivity, hypertension, Hypospadias, idiopathic infertility, immunologic markers among vulcanization workers , Infection|Precursor Cell Lymphoblastic Leukemia-Lymphoma, infertility, male, Infertility, Male|Oligospermia, Infertility, Male|Varicocele, Inflammation, Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases, intrauterine growth, isothiocyanates, Jaundice, Neonatal, kidney cancer, Kidney Neoplasms, laryngeal cancer, Laryngeal Neoplasms, Laryngeal neoplasm|Laryngeal Neoplasms, lead and mercury metabolism, Leiomyoma, leukemia, leukemia, acute myeloid, leukemia, childhood acute lymphoblastic, Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Leukemia, Pre-B-Cell|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Translocation, Genetic, Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Prenatal Exposure Delayed Effects, Leukemia, Lymphocytic, Chronic, B-Cell, Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell, Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell, Leukemia, Lymphoid, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Leukemia, Myeloid, Leukemia, Myeloid, Acute, Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic, Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence, Leukemia, Myeloid, Acute|Recurrence, Leukemia, Myeloid|Myeloid Leukemia, Leukemia, Myeloid|Myeloid Leukemia|Recurrence, leukemia/lymphoma, T-Cell, leukemia; leukemia, myelodysplastic (TRLIMDS), Leukemia|Prenatal Exposure Delayed Effects, Leukoplakia, Oral, Leukoplakia|Mouth Neoplasms, limb deficiency defects, liver cancer, Liver Cirrhosis, Liver Cirrhosis, Alcoholic, Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic, liver disease, alcoholic, liver function- N, N-dimethylformamide, liver injury, drug-induced, longevity, lung adenocarcinoma, Lung Cancer, lung cancer , lung cancer susceptibility, lung cancer; hamartomas, lung cancer; homocysteine, lung function, Lung Neoplasms|Neoplasm of lung , Lung Neoplasms|Neoplasm of lung (disorder)|Occupational Diseases, Lupus Erythematosus, Systemic, Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus, Lupus Erythematosus, Systemic|Systemic lupus erythematosus, lymphoma, Lymphoma, B-Cell, Marginal Zone|mucosa-associated lymphoid tissue lymphoma|Stomach Neoplasms, Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse, Lymphoma, Large B-Cell, Diffuse|Lymphoma, Non-Hodgkin, Lymphoma, Non-Hodgkin, Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's, lymphoma; Hodgkin's disease, macular degeneration, Malaria, Falciparum, malignant mesothelioma, mammographic density, Manganese Poisoning, manganism, susceptibility to occupational chronic, maternal microchimerism, melanoma, Melanoma|Skin Neoplasms, mental development, metabolism of toluene di-isocyanate, metastatic colorectal cancer, methamphetamine use, methotrexate toxicity, methylmercury retention, Micronuclei, Chromosome-Defective, Microsatellite Instability|Rectal Neoplasms, Migraine Disorders, miscarriage, motor neuron disease, mountain sickness, Mouth Neoplasms, Mouth Neoplasms|Pharyngeal Neoplasms|Tobacco Use Disorder, Multiple Chemical Sensitivity, multiple myeloma, Multiple Organ Failure|Postoperative Complications|Sepsis|Septic Shock|Shock, Septic|Systemic infection, Multiple Sclerosis, mutagen sensitivity, myelodysplastic syndrome, Myelodysplastic Syndromes, myeloid leukemia, nasopharyngeal cancer, nasopharyngeal carcinoma, Nasopharyngeal Neoplasms, Neoplasm Metastasis|osteosarcoma, Neoplasms, Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms, Neoplasms|Obesity, Nephrotic Syndrome, Neuroblastoma, neuropathy, neutropenia, non-allergic nasal polyposis, non-Hodgkin's lymphoma, normal variation, null, Obesity, Obstetric Labor, Premature, Occupational Diseases|Respiratory Tract Diseases, Optic Nerve Diseases, oral cancer, oral cancer; leukoplakia, oral clefting, organophosphate toxicity, orolaryngeal cancer, ototoxicity, ovarian cancer, ovarian cancer , Ovarian Failure, Premature, oxidative stress, oxidative stress , PAH metabolites, urinary, PAH-DNA adducts, pancreatic cancer, pancreatic neoplasm|Pancreatic Neoplasms, Pancreatitis, Pancreatitis, Chronic, papillary thyroid cancer, Parkinson's Disease, periodontitis, Peripheral Nervous System Diseases, pharmacogenes, pharmacogenetic studies, phenanthrene metabolite ratios, urinary, pneumoconiosis, coal workers', Pneumonia, Poisoning, polycyclic aromatic hydrocarbon-DNA adduct levels, polycyclic aromatic hydrocarbon-DNA adducts, polycyclic aromatic hydrocarbons, POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome, Pre-Eclampsia, Precursor Cell Lymphoblastic Leukemia-Lymphoma, preeclampsia, Pregnancy Complications, Premature Birth, prenatal environment exposure, Prenatal Exposure Delayed Effects, Presbycusis| Hearing Loss, preterm delivery, prostate cancer, prostatic hyperplasia, Prostatic Hyperplasia|Prostatic Neoplasms, Prostatic Neoplasms, Proteinuria, Psoriasis, Psychoses, Substance-Induced|Substance-Related Disorders, Pterygium, Pulmonary Disease, Chronic Obstructive, Raynaud Disease, Reperfusion Injury, Respiration Disorders, Respiratory Hypersensitivity, Respiratory Sounds, Retinopathy of Prematurity, rheumatoid arthritis, Rhinitis, Allergic, Perennial, Rosacea, Schizophrenia, serum lipid parameters, sex hormones, sister-chromatid exchanges, skin cancer, non-melanoma, Skin Diseases, smoking, smoking genotoxic effects, soft tissue sarcoma, solar keratosis, stomach cancer, Stomach Neoplasms, styrene, styrene toxicity, sulphamethoxazole hypersensitivity, systemic lupus erythematosus, tardive dyskinesia, Testicular Neoplasms, thimerosal sensitization, thryoid nodules|Thyroid Nodule, thyroid cancer, thyroid neoplasm|Thyroid Neoplasms, tobacco consumption, Tuberculosis, tuberculosis , Tuberculosis, Pulmonary, tuberculosis; esophageal cancer, tumour characteristics and survival, Type 2 diabetes, Type 2 Diabetes| edema | rosiglitazone, Upper aerodigestive tract cancers, Urinary Bladder Neoplasms, urinary PAH metabolites, Uterine Cervical Neoplasms, Varicocele, vinyl chloride, vinyl chloride , Vitiligo,
GOTERM_BP_DIRECT glutathione metabolic process, metabolic process, nitrobenzene metabolic process, xenobiotic catabolic process, cellular detoxification of nitrogen compound, glutathione derivative biosynthetic process,
GOTERM_CC_DIRECT cytoplasm, cytosol,
GOTERM_MF_DIRECT glutathione transferase activity, transferase activity, enzyme binding, protein homodimerization activity, glutathione binding,
INTERPRO Glutathione S-transferase, Mu class, Glutathione S-transferase, N-terminal, Glutathione S-transferase, C-terminal, Glutathione S-transferase, C-terminal-like, Thioredoxin-like fold,
KEGG_PATHWAY Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450, Chemical carcinogenesis,
OFFICIAL_GENE_SYMBOL GSTM1,
PFAM Glutathione S-transferase, C-terminal domain, Glutathione S-transferase, N-terminal domain, Glutathione S-transferase, C-terminal domain,
PUBMED_ID 10625170, 10791558, 11037803, 11040079, 11044240, 11045782, 11045791, 11045797, 11051261, 11055624, 11062156, 11081456, 11097350, 11131031, 11137199, 11142418, 11159742, 11159743, 11162685, 11165755, 11169956, 11173863, 11181039, 11181983, 11186133, 11191882, 11198676, 11201682, 11219770, 11227922, 11230469, 11234415, 11257276, 11271497, 11275366, 11278289, 11283827, 11291049, 11295132, 11297759, 11300251, 11303592, 11307147, 11325850, 11328408, 11330960, 11389067, 11406420, 11406608, 11408954, 11422615, 11447041, 11470766, 11477481, 11501853, 11503278, 11505167, 11505220, 11505223, 11520401, 11535248, 11535253, 11553769, 11562107, 11564581, 11585745, 11588132, 11595069, 11641039, 11675150, 11675474, 11680579, 11688992, 11692073, 11700265, 11719088, 11719393, 11731429, 11740339, 11751390, 11751440, 11751442, 11757669, 11760815, 11766168, 11773864, 11792413, 11808883, 11809532, 11810042, 11810936, 11815259, 11819562, 11819818, 11825664, 11833070, 11840286, 11844594, 11859435, 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22611936, 22614024, 22622525, 22631654, 22642106, 22652274, 22653598, 22660220, 22664944, 22665971, 22676722, 22681588, 22683820, 22686318, 22686319, 22686321, 22692893, 22697302, 22732554, 22734843, 22736250, 22748443, 22752755, 22766250, 22782090, 22782580, 22788240, 22799358, 22809837, 22812193, 22813660, 22817656, 22841242, 22845549, 22852846, 22858312, 22867088, 22874804, 22876127, 22880812, 22885711, 22893352, 22900055, 22903474, 22921799, 22924777, 22952149, 22960333, 22972496, 22994718, 22994755, 23000285, 23011367, 23013535, 23014993, 23019974, 23021798, 23026209, 23053970, 23071687, 23073505, 23077626, 23077643, 23079819, 23090633, 23107768, 23142420, 23146971, 23152866, 23159492, 23159782, 23164539, 23167410, 23173169, 23175321, 23184764, 23184765, 23185284, 23189206, 23204253, 23215883, 23220723, 23222181, 23227845, 23232001, 23238917, 23239128, 23244102, 23265943, 23268570, 23275234, 23275251, 23287989, 23292236, 23293967, 23296061, 23296494, 23311983, 23317232, 23317262, 23324581, 23330093, 23342067, 23357602, 23368529, 23376175, 23377313, 23394311, 23395936, 23433732, 23437305, 23444898, 23444902, 23450492, 23464442, 23469236, 23481061, 23484121, 23534760, 23537991, 23552977, 23570881, 23589999, 23590899, 23600494, 23625656, 2362832, 23628324, 23631429, 23661016, 23661361, 23675469, 23679259, 23681307, 23684483, 23690164, 23707957, 23717494, 23725116, 23731957, 23747403, 23749488, 23758905, 23765968, 23790786, 23801151, 23803127, 23810248, 23845145, 23873097, 23877133, 23884605, 23886141, 23886179, 23886197, 23888321, 23900674, 23932298, 23949201, 23982010, 24008019, 24014086, 24022662, 24022663, 24048194, 24053064, 24075358, 24084248, 24086370, 24098457, 24114827, 24120392, 24136740, 24194954, 24197978, 24203463, 24216264, 24244742, 24250808, 24254297, 24276031, 24291050, 24295891, 24318990, 24319713, 24324590, 24337975, 24344877, 24375038, 24381101, 24382428, 24391774, 24399650, 24407598, 24423050, 24460270, 24467372, 24500512, 24508281, 24525147, 24527777, 24528041, 24528063, 24532428, 24535271, 24535898, 24535908, 24559168, 24562622, 24582550, 24605635, 24613990, 24637014, 24637631, 24640692, 24643684, 24655088, 24659449, 24670356, 24671854, 24682953, 2468363, 24685594, 24716937, 24722188, 24729086, 24732639, 24740636, 24754249, 24788870, 24806557, 24809844, 24815471, 24840051, 24842074, 24852428, 24852519, 24854448, 24903797, 24908960, 24913811, 24914957, 24919441, 24938875, 24948179, 24970787, 24994605, 24998552, 25015263, 25027082, 25027672, 25033877, 25036724, 25040976, 25080784, 25080812, 25101770, 25102096, 25118837, 25130880, 25183432, 25198353, 25208225, 25249451, 25251951, 25281494, 25283245, 25292056, 25305053, 25328891, 25341249, 25348056, 25357227, 25366778, 25375048, 25378345, 25395496, 25408579, 25420021, 25432134, 25443469, 25445355, 25450282, 25461363, 25472599, 25525805, 25532576, 25549292, 25565670, 25628002, 25654087, 25663492, 25697264, 25724184, 25725180, 25730077, 25735346, 25773389, 25773790, 25773803, 25775823, 25790712, 25797617, 25799091, 25807650, 25809865, 25867025, 25868597, 25876999, 25880856, 25923095, 26003511, 26046920, 26125818, 26125851, 26150166, 26158735, 26163595, 26166128, 26175060, 26179485, 26186194, 26219826, 26244436, 26295386, 26296146, 26327568, 26345960, 26350109, 26370772, 26400343, 26406947, 26434855, 26435566, 26456689, 26529288, 26535619, 26548378, 26552558, 26571237, 26580648, 26604430, 26663067, 26681006, 26937962, 27002825, 3123804, 3174634, 3419925, 3864155, 3979555, 6500576, 6712152, 7822249, 8317488, 8373352, 8403204, 8471052, 8473333, 8824514, 9452477, 9930979,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Cytoplasm, Direct protein sequencing, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transferase,
UP_SEQ_FEATURE chain:Glutathione S-transferase Mu 1, domain:GST C-terminal, domain:GST N-terminal, helix, modified residue, mutagenesis site, sequence conflict, sequence variant, splice variant, strand, turn,
UP_TISSUE Aorta, Colon, Fetal liver, Heart, Liver, Testis,
2731 glycine decarboxylase(GLDC) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000178445,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Erythrocyte Count, Hemoglobins, hyperglycinemia, nonketotic,
GOTERM_BP_DIRECT glycine catabolic process, glycine decarboxylation via glycine cleavage system, glyoxylate metabolic process, oxidation-reduction process,
GOTERM_CC_DIRECT nucleus, mitochondrion, mitochondrial matrix, cytosol, plasma membrane, glycine cleavage complex,
GOTERM_MF_DIRECT glycine dehydrogenase (decarboxylating) activity, electron carrier activity, glycine binding, lyase activity, enzyme binding, pyridoxal phosphate binding, protein dimerization activity,
INTERPRO Aromatic amino acid beta-eliminating lyase/threonine aldolase, Glycine cleavage system P protein, homodimeric, Pyridoxal phosphate-dependent transferase, major region, subdomain 1, Pyridoxal phosphate-dependent transferase, Glycine cleavage system P protein,
KEGG_PATHWAY Glycine, serine and threonine metabolism, Glyoxylate and dicarboxylate metabolism, Metabolic pathways, Biosynthesis of antibiotics, Carbon metabolism,
OFFICIAL_GENE_SYMBOL GLDC,
OMIM_DISEASE Glycine encephalopathy,
PFAM Beta-eliminating lyase, Glycine cleavage system P-protein,
PUBMED_ID 10798358, 10873393, 11286506, 11592811, 12402263, 12477932, 14552331, 15824356, 15851735, 15864413, 16344560, 1634607, 16404748, 16450403, 16482509, 16601880, 17361008, 18581728, 19615732, 1993704, 1996985, 20301531, 20877624, 21145461, 22171071, 22225612, 2268343, 22699663, 23349517, 24457600, 25231368, 25921289, 26186194, 26344197, 2773994, 6778858, 6790577,
UP_KEYWORDS Acetylation, Complete proteome, Disease mutation, Mitochondrion, Oxidoreductase, Pyridoxal phosphate, Reference proteome, Transit peptide,
UP_SEQ_FEATURE chain:Glycine dehydrogenase [decarboxylating], mitochondrial, modified residue, sequence conflict, sequence variant, transit peptide:Mitochondrion,
UP_TISSUE Brain, Platelet,
2822 glycosylphosphatidylinositol specific phospholipase D1(GPLD1) Related Genes Homo sapiens
BIOCARTA ADP-Ribosylation Factor,
ENSEMBL_GENE_ID ENSG00000112293,
GAD_DISEASE Alkaline Phosphatase, Body Weight, Creatinine, Fatty Liver|Metabolic Syndrome X, liver enzymes, plasma levels of liver enzymes,
GOTERM_BP_DIRECT ossification, cell migration involved in sprouting angiogenesis, chondrocyte differentiation, complement receptor mediated signaling pathway, GPI anchor release, negative regulation of cell proliferation, insulin receptor signaling pathway, response to glucose, positive regulation of endothelial cell migration, positive regulation of alkaline phosphatase activity, positive regulation of triglyceride biosynthetic process, negative regulation of triglyceride catabolic process, positive regulation of glucose metabolic process, positive regulation of high-density lipoprotein particle clearance, cellular response to insulin stimulus, cellular response to drug, hematopoietic stem cell migration, positive regulation of insulin secretion involved in cellular response to glucose stimulus, positive regulation of apoptotic process, positive regulation of cytolysis, phosphatidylcholine metabolic process, positive regulation of membrane protein ectodomain proteolysis, positive regulation of secretion, transepithelial transport, cellular response to calcium ion, cellular response to cholesterol, cellular response to triglyceride, cellular response to pH, hematopoietic stem cell migration to bone marrow, regulation of cellular response to insulin stimulus,
GOTERM_CC_DIRECT proteinaceous extracellular matrix, extracellular space, intracellular, cytoplasm, lysosomal membrane, intracellular membrane-bounded organelle, extracellular exosome,
GOTERM_MF_DIRECT glycosylphosphatidylinositol phospholipase D activity, phospholipase D activity, sodium channel regulator activity,
INTERPRO Glycoprotein phospholipase D, FG-GAP repeat, Integrin alpha beta-propellor,
KEGG_PATHWAY Glycosylphosphatidylinositol(GPI)-anchor biosynthesis,
OFFICIAL_GENE_SYMBOL GPLD1,
PFAM Zinc dependent phospholipase C, FG-GAP repeat,
PUBMED_ID 10752311, 11072085, 11254757, 11938765, 11939716, 11939719, 11989719, 12090469, 12367767, 12477932, 12536633, 14574404, 14767861, 15489334, 15500911, 15500962, 15814706, 15907827, 1606959, 16335952, 16831865, 17368745, 17467053, 17720976, 17761367, 17897319, 17949898, 18298948, 18328347, 1833386, 18940312, 19135435, 19460752, 20137110, 20139978, 2017684, 20648472, 20858461, 21131602, 22001757, 22260953, 22481092, 23533145, 24956203, 24990948, 24990952, 24990954, 25632961, 25867459, 25964559, 26341143, 26567912, 26680696, 2760042, 7512501,
SMART Int_alpha,
UP_KEYWORDS Alternative splicing, Complete proteome, Direct protein sequencing, Glycoprotein, Hydrolase, Polymorphism, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Phosphatidylinositol-glycan-specific phospholipase D, glycosylation site:N-linked (GlcNAc...), repeat:FG-GAP 1, repeat:FG-GAP 2, repeat:FG-GAP 3, repeat:FG-GAP 4, repeat:FG-GAP 5, repeat:FG-GAP 6, repeat:FG-GAP 7, sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Bone marrow, Eye, Liver, Pancreas, Plasma, Serum,
26088 golgi associated, gamma adaptin ear containing, ARF binding protein 1(GGA1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000100083,
GOTERM_BP_DIRECT intracellular protein transport, vesicle-mediated transport, cellular protein metabolic process, positive regulation of protein catabolic process, toxin transport,
GOTERM_CC_DIRECT intracellular, nucleoplasm, Golgi apparatus, endosome membrane, membrane, clathrin adaptor complex, intracellular membrane-bounded organelle,
GOTERM_MF_DIRECT protein binding,
INTERPRO VHS, GAT, Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain, Clathrin adaptor, gamma-adaptin, appendage, ENTH/VHS, Coatomer/clathrin adaptor appendage, Ig-like subdomain,
KEGG_PATHWAY Lysosome,
OFFICIAL_GENE_SYMBOL GGA1,
PFAM VHS domain, Adaptin C-terminal domain, GAT domain,
PUBMED_ID 10591208, 10747088, 10747089, 10749927, 10814529, 11124697, 11301005, 11387475, 11390366, 11792819, 11821067, 11859375, 11859376, 11950392, 12060753, 12135764, 12221117, 12477932, 12505986, 12538641, 12578827, 12636914, 12668765, 12679809, 12767220, 12808037, 12858163, 14567678, 14636058, 14637142, 14638859, 14660606, 14665628, 14690499, 14702039, 14973137, 15039775, 15044437, 15047686, 15117318, 15143060, 15231748, 15345724, 15457209, 15461802, 15466887, 15489334, 15615712, 15775984, 15886016, 16303743, 16344560, 16407204, 16473621, 16751776, 16996030, 17005855, 17052248, 17151287, 17344219, 17494868, 17506864, 17596511, 17855360, 18418388, 18439901, 18638397, 19285159, 19788741, 19946888, 20012524, 20015111, 20211637, 20214818, 20676133, 21841072, 21988832, 22004035, 22522702, 22621900, 23383273, 23824909, 24407285, 24866237, 25195858, 25416956, 25496667, 26344197, 26638075, 8125298,
SMART VHS, Alpha_adaptinC2,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Complete proteome, Endosome, Golgi apparatus, Membrane, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Transport, Ubl conjugation,
UP_SEQ_FEATURE chain:ADP-ribosylation factor-binding protein GGA1, domain:GAE, domain:GAT, domain:VHS, helix, modified residue, mutagenesis site, region of interest:Interaction with ARF3, region of interest:Unstructured hinge, sequence variant, short sequence motif:Autoinhibitory, splice variant, strand, turn,
UP_TISSUE Brain, Heart, Lung, Lymph, Prostate, Testis,
440563 heterogeneous nuclear ribonucleoprotein C-like 2(HNRNPCL2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000275774,
GOTERM_CC_DIRECT nucleus, intracellular ribonucleoprotein complex,
GOTERM_MF_DIRECT nucleotide binding, nucleic acid binding, RNA binding,
INTERPRO RNA recognition motif domain, Nucleotide-binding, alpha-beta plait, Heterogeneous nuclear ribonucleoprotein C, Raly,
OFFICIAL_GENE_SYMBOL HNRNPCL2,
PFAM RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain),
PIR_SUPERFAMILY heterogeneous nuclear ribonucleoprotein C, Raly type,
PUBMED_ID 12477932, 17643375,
SMART RRM,
UP_KEYWORDS Coiled coil, Complete proteome, Nucleus, Reference proteome, Ribonucleoprotein, RNA-binding,
UP_SEQ_FEATURE chain:Heterogeneous nuclear ribonucleoprotein C-like 1, domain:RRM, modified residue, sequence variant,
UP_TISSUE Pooled, Uterus,
85235 histone cluster 1 H2A family member h(HIST1H2AH) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000274997,
GAD_DISEASE Echocardiography, Schizophrenia,
GOTERM_BP_DIRECT chromatin silencing,
GOTERM_CC_DIRECT nucleosome, nuclear chromatin, nucleus, extracellular exosome,
GOTERM_MF_DIRECT DNA binding, protein heterodimerization activity,
INTERPRO Histone H2A, Histone core, Histone-fold,
KEGG_PATHWAY Alcoholism, Systemic lupus erythematosus,
OFFICIAL_GENE_SYMBOL hist1h2ah,
PFAM Core histone H2A/H2B/H3/H4,
PUBMED_ID 10064132, 10384058, 11080476, 11689053, 12408966, 12477932, 14574404, 14657027, 15010469, 15078818, 15386022, 15489334, 15823041, 16319397, 16359901, 16702407, 17074886, 20458337, 21319273, 22810585, 23376485, 23533145, 25963833, 9566873,
SMART H2A,
UP_KEYWORDS Acetylation, Chromosome, Citrullination, Complete proteome, DNA-binding, Isopeptide bond, Methylation, Nucleosome core, Nucleus, Phosphoprotein, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:Histone H2A type 1, chain:Histone H2A type 1-H, chain:Histone H2A type 1-J, cross-link:Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin), modified residue, mutagenesis site,
UP_TISSUE Bone, Brain, Colon, Eye, Lymph, PCR rescued clones, Placenta, Spleen, Stomach, Testis, Thymus, Tongue,
83933 histone deacetylase 10(HDAC10) Related Genes Homo sapiens
COG_ONTOLOGY Chromatin structure and dynamics / Secondary metabolites biosynthesis, transport, and catabolism,
ENSEMBL_GENE_ID ENSG00000100429,
GAD_DISEASE Carcinoma, Hepatocellular|Hepatitis B, Chronic|LCC - Liver cell carcinoma|Liver neoplasms, Schizophrenia, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, chromatin organization, transcription, DNA-templated, regulation of transcription, DNA-templated, protein deacetylation, oligodendrocyte development, histone deacetylation, negative regulation of transcription, DNA-templated, histone H3 deacetylation,
GOTERM_CC_DIRECT histone deacetylase complex, nucleus, nucleoplasm, cytoplasm,
GOTERM_MF_DIRECT histone deacetylase activity, protein binding, hydrolase activity, enzyme binding, NAD-dependent histone deacetylase activity (H3-K14 specific), protein deacetylase activity, histone deacetylase binding,
INTERPRO Histone deacetylase superfamily, Histone deacetylase domain,
KEGG_PATHWAY Alcoholism, Viral carcinogenesis,
OFFICIAL_GENE_SYMBOL HDAC10,
PFAM Histone deacetylase domain,
PUBMED_ID 10591208, 11677242, 11726666, 11739383, 11861901, 12477932, 14578343, 14670976, 14759258, 15305372, 15461802, 15489334, 17172643, 17892858, 19913121, 20032463, 20471694, 20628086, 20680488, 21247901, 22730529, 22989952, 23752268, 23801752, 23897811, 24145760, 24927181, 25337229, 25963833, 26221039, 26240284, 8889548,
UP_KEYWORDS Alternative splicing, Chromatin regulator, Complete proteome, Cytoplasm, Hydrolase, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repressor, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Histone deacetylase 10, mutagenesis site, region of interest:Histone deacetylase, sequence conflict, sequence variant, splice variant,
UP_TISSUE Amygdala, Brain, Fetal brain, Hepatoma, Leukemia, PCR rescued clones,
51564 histone deacetylase 7(HDAC7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000061273,
GAD_DISEASE bronchodilator response, Celiac Disease|, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, vasculogenesis, transcription, DNA-templated, regulation of transcription, DNA-templated, cell-cell junction assembly, protein sumoylation, negative regulation of interleukin-2 production, negative regulation of osteoblast differentiation, histone H3 deacetylation, positive regulation of cell migration involved in sprouting angiogenesis, negative regulation of NIK/NF-kappaB signaling,
GOTERM_CC_DIRECT histone deacetylase complex, nucleus, nucleoplasm, cytoplasm,
GOTERM_MF_DIRECT chromatin binding, transcription corepressor activity, protein kinase C binding, protein binding, SUMO transferase activity, protein kinase binding, NAD-dependent histone deacetylase activity (H3-K14 specific), activating transcription factor binding, metal ion binding, repressing transcription factor binding, 14-3-3 protein binding,
INTERPRO Histone deacetylase superfamily, Histone deacetylase class II, eukaryotic, Histone deacetylase domain,
KEGG_PATHWAY Alcoholism, Viral carcinogenesis,
OFFICIAL_GENE_SYMBOL HDAC7,
PFAM Histone deacetylase domain,
PIR_SUPERFAMILY histone deacetylase class II, eukaryotic type,
PUBMED_ID 10640276, 10922406, 11262386, 11279209, 11466315, 11929873, 12015313, 12239305, 12477932, 12551922, 12711221, 12753745, 12970571, 14702039, 15161933, 15166223, 15194749, 15280364, 15302935, 15324660, 15364908, 15489334, 15623513, 15738054, 15778465, 16541075, 16860317, 16956611, 16980305, 16980613, 17353931, 17360565, 17369396, 17373667, 17379597, 17827213, 17873065, 17947801, 17962809, 17979178, 17997710, 18029348, 18285338, 18339811, 18458084, 18463162, 18506539, 18509061, 18617643, 18625722, 19029091, 19240061, 19351956, 19355988, 19738286, 19784544, 19913121, 19917725, 19966789, 20188095, 20224040, 20590529, 20628086, 20693714, 21048031, 21120446, 21148070, 21324898, 21516116, 21836063, 22155184, 22172637, 22308472, 22584896, 22658674, 23128233, 23251661, 23263486, 23401860, 23696748, 23752268, 23853092, 23880157, 23891737, 24189120, 24239178, 24255178, 24658140, 25173798, 25402006, 25411248, 25416956, 25511694, 26186194, 26272600, 26469385, 26496610, 8125298,
UP_KEYWORDS 3D-structure, Alternative splicing, Chromatin regulator, Complete proteome, Cytoplasm, Hydrolase, Metal-binding, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Repressor, Transcription, Transcription regulation, Zinc,
UP_SEQ_FEATURE chain:Histone deacetylase 7, compositionally biased region:Poly-Pro, compositionally biased region:Poly-Ser, helix, modified residue, region of interest:Histone deacetylase, region of interest:Interaction with MEF2A, region of interest:Interaction with MEF2C, region of interest:Interaction with SIN3A, region of interest:Transcription repression 1, region of interest:Transcription repression 2, sequence conflict, sequence variant, short sequence motif:Nuclear export signal, splice variant, strand, turn,
UP_TISSUE B-cell, Cervix carcinoma, Colon, Embryo, Epithelium, Human lung, Placenta, Spleen, Teratocarcinoma, Uterus,
23553 hyaluronoglucosaminidase 4(HYAL4) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000106302,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT carbohydrate metabolic process, glycosaminoglycan catabolic process, chondroitin sulfate catabolic process,
GOTERM_CC_DIRECT cell surface, integral component of membrane,
GOTERM_MF_DIRECT hyalurononglucosaminidase activity,
INTERPRO Aldolase-type TIM barrel, Glycoside hydrolase, superfamily, Hyaluronidase,
KEGG_PATHWAY Glycosaminoglycan degradation, Metabolic pathways,
OFFICIAL_GENE_SYMBOL hyal4,
PFAM Hyaluronidase,
PIR_SUPERFAMILY hyaluronidase,
PUBMED_ID 10493834, 10737800, 10989127, 12477932, 19889881, 20379614, 23086929, 23284306, 26344197, 9847074,
UP_KEYWORDS Complete proteome, Disulfide bond, EGF-like domain, Glycoprotein, Glycosidase, Hydrolase, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE active site:Proton donor, chain:Hyaluronidase-4, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Cerebellum,
91156 immunoglobulin-like and fibronectin type III domain containing 1(IGFN1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163395,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_CC_DIRECT nucleus, Z disc,
GOTERM_MF_DIRECT protein binding,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Fibronectin, type III, Immunoglobulin-like domain, Immunoglobulin I-set, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL IGFN1,
PFAM Fibronectin type III domain, Immunoglobulin I-set domain,
PUBMED_ID 12477932, 15385448, 18756455, 20379614, 25416956,
SMART FN3, IGc2, IG,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Immunoglobulin domain, Nucleus, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Immunoglobulin-like and fibronectin type III domain-containing protein 1, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:Fibronectin type-III 3, domain:Fibronectin type-III 4, domain:Ig-like 1, domain:Ig-like 2, domain:Ig-like 3, domain:Ig-like 4, domain:Ig-like 5, sequence variant, splice variant,
UP_TISSUE Skeletal muscle, Testis,
11185 indolethylamine N-methyltransferase(INMT) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000241644,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone, Waist Circumference,
GOTERM_BP_DIRECT amine metabolic process, response to toxic substance, methylation,
GOTERM_CC_DIRECT cytosol,
GOTERM_MF_DIRECT thioether S-methyltransferase activity, protein binding, methyltransferase activity, amine N-methyltransferase activity,
INTERPRO Methyltransferase, NNMT/PNMT/TEMT, Methyltransferase NNMT/PNMT/TEMT, conserved site,
KEGG_PATHWAY Tryptophan metabolism, Selenocompound metabolism,
OFFICIAL_GENE_SYMBOL INMT,
PFAM NNMT/PNMT/TEMT family,
PIR_SUPERFAMILY phenylethanolamine N-methyltransferase,
PUBMED_ID 10552930, 11322482, 12477932, 12853948, 15489334, 16095048, 16344560, 18394749, 192352, 19913121, 20628086, 22396660, 25416956, 26183064, 26537946,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Cytoplasm, Detoxification, Methyltransferase, Polymorphism, Reference proteome, S-adenosyl-L-methionine, Transferase,
UP_SEQ_FEATURE binding site:S-adenosyl-L-methionine, binding site:S-adenosyl-L-methionine; via carbonyl oxygen, chain:Indolethylamine N-methyltransferase, helix, region of interest:S-adenosyl-L-methionine binding, sequence variant, strand, turn,
UP_TISSUE Chondrosarcoma Lung Metastasis, Lung, Placenta, Skeletal muscle, Spleen,
3674 integrin subunit alpha 2b(ITGA2B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000005961,
GAD_DISEASE Acute Coronary Syndrome, Alzheimer's disease , Antiphospholipid Syndrome|Arteriosclerosis|Lupus Erythematosus, Systemic|Thrombosis, Apoplexy|Recurrence|Stroke, atherosclerosis, coronary, blood transfusion complications, brain hemorrhage, Brain Ischemia|Recurrence|Stroke, Brain Ischemia|Stroke, Buerger's disease, cerebrovascular disease; sickle cell anemia, Coronary Artery Disease, coronary artery disease; myocardial infarction, coronary artery stent thrombosis, Coronary Disease, Coronary Disease|Coronary heart disease, Coronary Heart Disease, deletion-insertion and alternative splicing, diabetes, type 2, Glanzmann thrombasthenia, Graft Occlusion, Vascular|Kidney Failure, Chronic|Thrombosis, hematology indices, intima-media thickness, ischemia; myocardial infarction; stroke; revascularization, urgent, lymphoproliferative disorders; blood transfusion complications, metabolism disorders; myocardial infarction; stroke, ischemic, myocardial infarct, myocardial infarct; atherosclerosis, coronary, myocardial infarct; lymphoproliferative disorders; restenosis, Myocardial Infarction, myocardial infarction; stroke, myocardial infarction; stroke, ischemic, myocardial injury, nephropathy, normal variation, null, Pre-Eclampsia, pregnancy loss, recurrent; fetal loss, retinal vascular occlusion, retinopathy, diabetic, Stroke, stroke, ischemic, systemic lupus erythematosus, thrombocytopenia, thrombosis, thrombus formation, arterial, Type 2 Diabetes| edema | rosiglitazone, Vascular Diseases, vaso-occlusive crisis,
GOTERM_BP_DIRECT platelet degranulation, positive regulation of leukocyte migration, cell adhesion, cell-matrix adhesion, integrin-mediated signaling pathway, extracellular matrix organization, platelet aggregation,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, focal adhesion, integrin complex, external side of plasma membrane, cell surface, platelet alpha granule membrane, extracellular exosome, blood microparticle,
GOTERM_MF_DIRECT protein binding, identical protein binding, metal ion binding, extracellular matrix binding, fibrinogen binding,
INTERPRO Integrin alpha chain, FG-GAP repeat, Integrin alpha beta-propellor, Integrin alpha-2, Integrin alpha chain, C-terminal cytoplasmic region, conserved site,
KEGG_PATHWAY Rap1 signaling pathway, PI3K-Akt signaling pathway, Focal adhesion, ECM-receptor interaction, Platelet activation, Hematopoietic cell lineage, Regulation of actin cytoskeleton, Pathways in cancer, Small cell lung cancer, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy,
OFFICIAL_GENE_SYMBOL ITGA2B,
OMIM_DISEASE Bleeding disorder, platelet-type, 16, autosomal dominant, Glanzmann thrombasthenia, Thrombocytopenia, neonatal alloimmune, BAK antigen related,
PFAM Integrin alpha cytoplasmic region, FG-GAP repeat, Integrin alpha,
PUBMED_ID 10212286, 10391209, 10429193, 10605720, 10607701, 10772239, 11204574, 11238109, 11260063, 11260064, 11341496, 11359786, 11367863, 11460491, 11467947, 11487023, 11575217, 11583324, 11606749, 11698306, 11719362, 11728949, 11776052, 11798398, 11812775, 11858493, 11918133, 11964172, 11994301, 12023286, 12031826, 12038797, 12042322, 12049640, 12071877, 12083483, 12140290, 12181054, 12200372, 12297512, 12388784, 12393463, 12399140, 12408998, 12411794, 12424194, 12426312, 12446192, 12477932, 12506038, 12511588, 12586134, 12609844, 12637342, 12668663, 12719784, 12724616, 12730600, 12736272, 12799374, 12827240, 12860973, 12871362, 12871379, 12871468, 12871600, 12911597, 12938014, 1375923, 1429573, 14521607, 14525764, 14597981, 14671618, 14675395, 14681217, 14985176, 15056669, 15067009, 15075326, 15099289, 15121870, 15131115, 15134555, 15166241, 15205468, 15219201, 15226180, 15227729, 15316595, 15355503, 15379538, 15630502, 15634267, 15678278, 15701653, 15701721, 15730528, 15748238, 15842360, 15847651, 15863506, 15886807, 15890274, 15908444, 15917997, 15976180, 15978110, 16005629, 16051597, 16102042, 16115959, 16228296, 16248996, 16322781, 16324093, 16335952, 16357324, 16359515, 1639797, 16469512, 16487966, 1650365, 16546176, 16573563, 16581250, 16582881, 16636497, 16716076, 16773503, 16806233, 16822941, 16825200, 16877710, 16879215, 16879224, 16895913, 16905953, 16923192, 16933105, 17018384, 1702098, 17032655, 17138951, 17160992, 17192395, 17320454, 17332246, 17337041, 17346829, 1737795, 17414216, 17468108, 17488698, 17495265, 17538005, 17561290, 17615290, 17630485, 17635696, 17644514, 17714854, 17721619, 17728329, 17763154, 17767046, 17872456, 17922435, 17954176, 18041653, 18057877, 18064323, 18088350, 18174155, 18201749, 18211801, 18237139, 18316480, 18316775, 18317590, 18328539, 18331836, 18334487, 18383324, 18396070, 18399841, 18405917, 18433460, 18502778, 18573917, 18638089, 18641368, 18646302, 18791937, 18796633, 18826388, 18840708, 18976939, 18979362, 18979363, 18989530, 18990338, 19082798, 19117493, 19132198, 19170775, 19172520, 19232685, 19262211, 19279667, 19286442, 19329429, 19527732, 1953640, 19562259, 19570064, 19691478, 19702628, 19729601, 19734576, 19765213, 19778317, 19804783, 19805198, 19863457, 19884334, 19888429, 19903699, 19913121, 19948007, 19996122, 20002543, 20020534, 20075254, 2010551, 20149160, 20153702, 20158572, 20230421, 20308600, 20363746, 20486118, 20514618, 20584077, 20615878, 20628086, 20652946, 20667040, 20723174, 20819594, 20828133, 21029361, 21071690, 21156831, 21190668, 21388953, 21454453, 21487445, 21529934, 21645497, 21832081, 21917754, 21966982, 22015616, 22015659, 22078565, 22102273, 22136613, 22139419, 22190468, 22268729, 22268819, 22308022, 22448399, 22456341, 22457811, 22461623, 22484027, 22513797, 22516433, 22531012, 22613710, 22730538, 22738334, 22779914, 22855295, 22880801, 22952660, 23022222, 23082158, 23197154, 23216754, 2322558, 23243278, 23305224, 23358226, 23382103, 23412353, 2345548, 23494007, 2350579, 2351656, 23519467, 23571313, 23580774, 23750933, 23929305, 23941967, 24030382, 24096143, 24116162, 24136164, 24176823, 24210614, 24244288, 24338009, 2439501, 2444974, 24474638, 24523237, 24677266, 24749250, 2476117, 24838247, 25290158, 25373348, 25518511, 25632962, 25827233, 26301697, 26359510, 26391523, 26631735, 26867579, 27093792, 2775232, 2845986, 3422188, 3479442, 3534886, 3607284, 3801670, 7508443, 7520045, 7559457, 7688323, 7706461, 7878622, 8132607, 8282784, 8400294, 8467233, 8612741, 8620874, 8631894, 8663236, 8704171, 9030514, 9215749, 9288464, 9351824, 9473221, 9722314, 9734640, 9736129, 9763559, 9789327, 9809890, 9809974, 9920835,
SMART Int_alpha,
UP_KEYWORDS 3D-structure, Alternative splicing, Calcium, Cell adhesion, Cleavage on pair of basic residues, Complete proteome, Direct protein sequencing, Disease mutation, Disulfide bond, Glycoprotein, Integrin, Membrane, Metal-binding, Polymorphism, Proteomics identification, Pyrrolidone carboxylic acid, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Integrin alpha-IIb, chain:Integrin alpha-IIb heavy chain, chain:Integrin alpha-IIb light chain, form 1, chain:Integrin alpha-IIb light chain, form 2, disulfide bond, glycosylation site:N-linked (GlcNAc...), glycosylation site:O-linked (GalNAc...), glycosylation site:O-linked (GalNAc...); in alloantigen HPA- 3B, helix, modified residue, mutagenesis site, repeat:FG-GAP 1, repeat:FG-GAP 2, repeat:FG-GAP 3, repeat:FG-GAP 4, repeat:FG-GAP 5, repeat:FG-GAP 6, repeat:FG-GAP 7, sequence conflict, sequence variant, short sequence motif:GFFKR motif, signal peptide, splice variant, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region, turn,
UP_TISSUE Brain, Erythroleukemia, Lung, Plasma, Spleen,
3452 interferon alpha 21(IFNA21) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000137080,
GAD_DISEASE Dengue Hemorrhagic Fever, Hepatitis C|Remission, Spontaneous, melanoma|Nevus|Skin Neoplasms, Narcolepsy,
GOTERM_BP_DIRECT adaptive immune response, T cell activation involved in immune response, natural killer cell activation involved in immune response, humoral immune response, blood coagulation, cytokine-mediated signaling pathway, B cell differentiation, positive regulation of peptidyl-serine phosphorylation of STAT protein, B cell proliferation, response to exogenous dsRNA, innate immune response, defense response to virus, type I interferon signaling pathway, regulation of type I interferon-mediated signaling pathway,
GOTERM_CC_DIRECT extracellular region, extracellular space,
GOTERM_MF_DIRECT cytokine activity, cytokine receptor binding, type I interferon receptor binding,
INTERPRO Interferon alpha/beta/delta, Four-helical cytokine-like, core, Four-helical cytokine, core,
KEGG_PATHWAY Cytokine-cytokine receptor interaction, Regulation of autophagy, PI3K-Akt signaling pathway, Toll-like receptor signaling pathway, RIG-I-like receptor signaling pathway, Cytosolic DNA-sensing pathway, Jak-STAT signaling pathway, Natural killer cell mediated cytotoxicity, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Influenza A, Herpes simplex infection, Autoimmune thyroid disease,
OFFICIAL_GENE_SYMBOL IFNA21,
PFAM Interferon alpha/beta domain,
PUBMED_ID 11694501, 12089333, 12477932, 1381203, 1385305, 15481145, 15489334, 15953390, 16160188, 16278001, 16375755, 16418394, 1708818, 17180012, 17360657, 17854033, 18005734, 18200009, 18200012, 18272764, 18414664, 18672082, 19004943, 1905933, 19559726, 19706714, 20096141, 2014240, 20237496, 20331378, 20574843, 20588308, 20677014, 21757613, 22315404, 22739040, 22814248, 23100517, 23255800, 2552026, 25972534, 6163083, 6548765, 7510216, 7511078, 7526537, 7532202, 7583919, 7815507, 7904170, 7913356, 8345204, 8438572, 8661419, 8668211, 8764000, 8910771, 9027905, 9108403, 9181467, 9225992, 9343822, 9425112, 9520456, 9658081, 9865497,
SMART IFabd,
UP_KEYWORDS Antiviral defense, Complete proteome, Cytokine, Direct protein sequencing, Disulfide bond, Polymorphism, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE chain:Interferon alpha-21, disulfide bond, sequence conflict, sequence variant, signal peptide,
UP_TISSUE Lymphoblast,
84818 interleukin 17 receptor C(IL17RC) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163702,
GOTERM_BP_DIRECT cytokine-mediated signaling pathway, defense response to fungus, granulocyte chemotaxis, positive regulation of cytokine production involved in inflammatory response, positive regulation of interleukin-6 secretion,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, cell surface,
GOTERM_MF_DIRECT receptor binding, interleukin-17 receptor activity,
INTERPRO SEFIR,
OFFICIAL_GENE_SYMBOL IL17RC,
OMIM_DISEASE Candidiasis, familial, 9,
PFAM SEFIR domain, Interleukin-17 receptor extracellular region,
PUBMED_ID 11706037, 12477932, 12975309, 14504135, 14702039, 15340161, 15489334, 16688746, 16785495, 17911633, 18097068, 18684971, 20173024, 22744455, 22898922, 22999050, 24120361, 24885153, 25918342, 8125298,
UP_KEYWORDS Alternative splicing, Cell membrane, Complete proteome, Direct protein sequencing, Glycoprotein, Membrane, Polymorphism, Receptor, Reference proteome, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Interleukin-17 receptor C, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Spleen, Uterus, Whole embryo,
3417 isocitrate dehydrogenase (NADP(+)) 1, cytosolic(IDH1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000138413,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Adenoma, Oxyphilic|Carcinoma, Medullary|Carcinoma, Papillary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms, Astrocytoma|Brain Neoplasms, Astrocytoma|Brain Neoplasms|Oligodendroglioma, Astrocytoma|Glioblastoma|Nervous System Neoplasms, Blast Crisis|Blast Phase|Myeloproliferative Disorders, Blast Crisis|Blast Phase|Polycythemia Vera|Primary Myelofibrosis|Thrombocythemia, Essential|Thrombocythemia, Hemorrhagic, Brain Neoplasms|Chromosome Aberrations|Chromosome abnormality|Glioma, Brain Neoplasms|Glioblastoma, Brain Neoplasms|Glioblastoma|Oligodendroglioma, Brain Neoplasms|Glioma, Brain Neoplasms|Lung Neoplasms|melanoma|Neoplasm Metastasis|Neoplasm of lung |Skin Neoplasms, Cleft Lip|Cleft Palate, Glioblastoma, Hematologic Diseases|Leukemia, Myeloid, Acute, HIV Infections|[X]Human immunodeficiency virus disease, Leukemia, Myeloid, Acute, Leukemia, Myeloid, Acute|Monosomy|Recurrence, Leukemia, Myeloid, Acute|Myelodysplastic Syndromes|Preleukemia, Leukemia, Myeloid, Acute|Recurrence, Leukemia, Myelomonocytic, Chronic, Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's, Myelodysplastic Syndromes|Myeloproliferative Disorders|Preleukemia, Myelodysplastic Syndromes|Preleukemia, Neuroectodermal Tumors, Primitive|Supratentorial Neoplasms, Pancreatic Neoplasms,
GOTERM_BP_DIRECT glyoxylate cycle, tricarboxylic acid cycle, isocitrate metabolic process, 2-oxoglutarate metabolic process, NADPH regeneration, glutathione metabolic process, response to oxidative stress, female gonad development, response to steroid hormone, regulation of phospholipid catabolic process, regulation of phospholipid biosynthetic process, cell-cell adhesion,
GOTERM_CC_DIRECT cytoplasm, mitochondrion, peroxisome, peroxisomal matrix, cytosol, cell-cell adherens junction, extracellular exosome,
GOTERM_MF_DIRECT magnesium ion binding, isocitrate dehydrogenase (NADP+) activity, receptor binding, protein homodimerization activity, NADP binding, NAD binding, (R)-2-hydroxyglutarate dehydrogenase activity, cadherin binding involved in cell-cell adhesion,
INTERPRO Isocitrate dehydrogenase NADP-dependent, Isocitrate/isopropylmalate dehydrogenase, conserved site, Isopropylmalate dehydrogenase-like domain,
KEGG_PATHWAY Citrate cycle (TCA cycle), Glutathione metabolism, Metabolic pathways, Biosynthesis of antibiotics, Carbon metabolism, 2-Oxocarboxylic acid metabolism, Biosynthesis of amino acids, Peroxisome,
OFFICIAL_GENE_SYMBOL idh1,
OMIM_DISEASE Glioma, susceptibility to, somatic,
PFAM Isocitrate/isopropylmalate dehydrogenase,
PIR_SUPERFAMILY isocitrate dehydrogenase (NADP),
PUBMED_ID 10521434, 11076863, 11230166, 11256614, 12477932, 12923220, 15173171, 15489334, 15489336, 15936593, 16169070, 16236267, 16344560, 16381901, 16396496, 16751257, 16756494, 18187620, 18772396, 18854154, 18985363, 19056867, 19117336, 19228619, 19246647, 19322201, 19340432, 19350208, 19351817, 19359588, 19378339, 19411854, 19435942, 19469031, 19543740, 19554337, 19636000, 19657110, 19667985, 19755387, 19765000, 19805672, 19903171, 19915015, 19915484, 19933982, 19935646, 20077503, 20097881, 20127344, 20129251, 20131059, 20133500, 20142433, 20160062, 20171147, 20171178, 20174854, 20178365, 20227112, 20367200, 20368538, 20368543, 20376084, 20376086, 20410924, 20427748, 20459648, 20465388, 20473936, 20485375, 20494930, 20508616, 20510884, 20514489, 20534697, 20538800, 20560678, 20567020, 20603105, 20615753, 20625116, 20634891, 20651067, 20659156, 20661018, 20667415, 20678218, 20692206, 20702649, 20725730, 20805365, 20874727, 20877624, 20880116, 20944672, 20946881, 20962861, 20972461, 20975057, 20975740, 21045145, 21069360, 21075857, 21079611, 21079649, 21080178, 21083371, 21088844, 21130701, 21163902, 21173122, 21177338, 21181477, 21225914, 21233841, 21284999, 21289278, 21294161, 21301070, 21307773, 21314850, 21316759, 21319273, 21326241, 21326614, 21343879, 21346257, 21356389, 21383741, 21437454, 21480859, 21481010, 21506885, 21516462, 21539821, 21569770, 21575384, 21598255, 21625441, 21643842, 21643985, 21647152, 21647154, 21690245, 21707716, 21717448, 21755347, 21781445, 21784755, 21845536, 21867611, 21873548, 21874255, 21885076, 21898821, 21904853, 21910919, 21912393, 21922591, 21929658, 21955925, 21983902, 21996744, 21997850, 22002076, 22015945, 22020636, 22025298, 22033490, 22034964, 22052461, 22057234, 22057236, 22064513, 22072542, 22074484, 22076165, 22101433, 22106302, 22113362, 22136423, 22144470, 22147457, 22166653, 22172803, 22180306, 22192702, 22197544, 22199315, 22217666, 22238332, 22238333, 22264756, 22270848, 22281465, 22291938, 22322613, 22323113, 22326863, 22343889, 22343901, 22360629, 22360810, 22385606, 22392125, 22396072, 22396073, 22397365, 22399191, 22410704, 22415316, 22427879, 22432788, 22445362, 22503487, 22520341, 22528790, 22616558, 22658674, 22668828, 22683334, 22687971, 22688054, 22748659, 22752663, 22763442, 22772731, 22772980, 22781348, 22781800, 22785212, 22790483, 22809434, 22824796, 22825915, 22844452, 22863883, 22868530, 22869205, 22885298, 22890969, 22899282, 22904127, 22917530, 22922798, 22922872, 22929312, 22939629, 22945896, 22968464, 23011765, 23015095, 23035067, 23038259, 23039322, 23041832, 23053494, 23063752, 23064941, 23071358, 23072665, 23074281, 23079654, 23111198, 23115158, 23135354, 23184331, 23187294, 23192014, 23204232, 23223340, 23232569, 23235339, 23236540, 23264629, 23307057, 23330999, 23358936, 23361564, 23365461, 23373447, 23376485, 23391413, 23410661, 23412777, 23429602, 23438035, 23451042, 23451940, 23485734, 23486687, 23486690, 23494632, 23494873, 23504258, 23512379, 23532369, 23533145, 23558169, 23561624, 23581583, 23598960, 23641016, 23681562, 23689617, 23731180, 23737489, 23793099, 23801081, 23817809, 23840696, 23877318, 23894344, 23904262, 23918605, 23934175, 23934769, 23954893, 23988086, 23996483, 23999441, 24004584, 24019001, 24046070, 24068788, 24077277, 24089051, 24129546, 24149775, 24160898, 24286310, 24295421, 24305719, 24311631, 24324372, 24333121, 24362902, 24368190, 24376688, 24384677, 24405933, 24443894, 24460285, 24473683, 24478380, 24510240, 24511544, 24529257, 24531386, 24532263, 24557705, 24565682, 24569570, 24590270, 24606448, 24626950, 24699305, 24722048, 24755473, 24760710, 24771584, 24847087, 24857351, 24860178, 24867810, 24868540, 24877111, 24880135, 24887488, 24889502, 24895549, 24898068, 24903073, 24922649, 24936872, 24958096, 24970694, 24986863, 24993250, 25005896, 25008158, 25008768, 25029120, 25033601, 25035396, 25040869, 25043045, 25078896, 25135281, 25150284, 25155243, 25164322, 25170661, 25225364, 25243911, 25251602, 25277207, 25283382, 25355558, 25391653, 25407774, 25432631, 25455102, 25468996, 25486927, 25496513, 25511738, 25523507, 25524848, 25555220, 25586175, 25586680, 25634750, 25648147, 25651001, 25652153, 25674227, 25678837, 25701198, 25706986, 25732040, 25778530, 25783747, 25790191, 25811801, 25818003, 25836588, 25849605, 25862748, 25895133, 25921289, 25962792, 25964481, 25987093, 26006098, 26008980, 26016821, 26022161, 26045167, 26046462, 26049021, 26061753, 26091668, 26095778, 26109200, 26115961, 26125858, 26138051, 26147657, 26158269, 26161668, 26185030, 26189213, 26228814, 26243269, 26276726, 26314843, 26316565, 26324126, 26328938, 26331834, 26337623, 26338964, 26344197, 26351014, 26395639, 26414224, 26485760, 26486081, 26503470, 26545048, 26558387, 26562302, 26582645, 26599207, 26617931, 26618343, 26669865, 26678339, 26700815, 26927556, 26945349, 26951332, 3861566, 4388365, 4422176, 7551812, 9866202,
SMART SM01329,
UP_KEYWORDS 3D-structure, Acetylation, Complete proteome, Cytoplasm, Direct protein sequencing, Glyoxylate bypass, Magnesium, Manganese, Metal-binding, NADP, Oxidoreductase, Peroxisome, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Tricarboxylic acid cycle,
UP_SEQ_FEATURE binding site:NADP, binding site:NADP; via amide nitrogen and carbonyl oxygen, binding site:Substrate, chain:Isocitrate dehydrogenase [NADP] cytoplasmic, helix, metal ion-binding site:Magnesium or manganese, modified residue, nucleotide phosphate-binding region:NADP, region of interest:Substrate binding, sequence conflict, sequence variant, site:Critical for catalysis, strand, turn,
UP_TISSUE Brain, Cajal-Retzius cell, Fetal brain cortex, Human endometrium, Kidney, Lung, Placenta,
55699 isoleucyl-tRNA synthetase 2, mitochondrial(IARS2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000067704,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Diabetes Mellitus, Type 2|,
GOTERM_BP_DIRECT tRNA aminoacylation for protein translation, isoleucyl-tRNA aminoacylation, regulation of translational fidelity,
GOTERM_CC_DIRECT cytoplasm, mitochondrion, mitochondrial matrix, cytosol, integral component of membrane,
GOTERM_MF_DIRECT tRNA binding, aminoacyl-tRNA editing activity, isoleucine-tRNA ligase activity, ATP binding,
INTERPRO Aminoacyl-tRNA synthetase, class I, conserved site, Aminoacyl-tRNA synthetase, class Ia, Isoleucine-tRNA ligase, Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain, Aminoacyl-tRNA synthetase, class 1a, anticodon-binding, Zinc finger, DNA glycosylase/AP lyase/isoleucyl tRNA synthetase, Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding, Rossmann-like alpha/beta/alpha sandwich fold, Isoleucine-tRNA ligase, type 1,
KEGG_PATHWAY Aminoacyl-tRNA biosynthesis,
OFFICIAL_GENE_SYMBOL iars2,
OMIM_DISEASE Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia,
PFAM tRNA synthetases class I (I, L, M and V), Zinc finger found in FPG and IleRS, Anticodon-binding domain of tRNA,
PUBMED_ID 12477932, 14702039, 15161933, 15489334, 16263121, 16710414, 17081983, 18029348, 19209188, 19490893, 20877624, 21832049, 22586326, 22939629, 24344204, 25036637, 25130867, 25277244, 25609649, 25921289, 26186194, 26344197, 26496610, 26508657, 26638075, 9466989,
UP_KEYWORDS Acetylation, Aminoacyl-tRNA synthetase, ATP-binding, Cataract, Complete proteome, Deafness, Disease mutation, Ligase, Membrane, Mitochondrion, Neuropathy, Nucleotide-binding, Polymorphism, Protein biosynthesis, Reference proteome, Transit peptide, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE binding site:ATP, chain:Isoleucyl-tRNA synthetase, mitochondrial, modified residue, sequence conflict, sequence variant, short sequence motif:"HIGH" region, short sequence motif:"KMSKS" region, transit peptide:Mitochondrion,
UP_TISSUE Brain, Epithelium, Liver, Placenta, Skin,
8687 keratin 38(KRT38) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000171360,
GAD_DISEASE Crohn's disease; ulcerative colitis, Erythrocytes,
GOTERM_CC_DIRECT intermediate filament, extracellular exosome,
GOTERM_MF_DIRECT structural molecule activity, protein binding,
INTERPRO Intermediate filament protein, Keratin, type I, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL KRT38,
PFAM Intermediate filament protein,
PUBMED_ID 10391933, 12477932, 15248378, 15617563, 16831889, 19380743, 23533145, 25416956, 7686952, 9756910,
SMART SM01391,
UP_KEYWORDS Coiled coil, Complete proteome, Intermediate filament, Keratin, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Keratin, type I cuticular Ha8, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Rod, region of interest:Tail, sequence conflict, sequence variant, site:Stutter,
UP_TISSUE Scalp,
121391 keratin 74(KRT74) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000170484,
GAD_DISEASE Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke, Coronary Disease|Coronary heart disease|Myocardial Infarction, Heart Failure, Tobacco Use Disorder,
GOTERM_BP_DIRECT intermediate filament cytoskeleton organization,
GOTERM_CC_DIRECT cytoplasm, keratin filament, extracellular exosome,
GOTERM_MF_DIRECT structural molecule activity, keratin filament binding,
INTERPRO Intermediate filament protein, Type II keratin, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL KRT74,
OMIM_DISEASE Woolly hair, autosomal dominant, Hypotrichosis 3, Ectodermal dysplasia 7, hair/nail type,
PFAM Intermediate filament protein,
PUBMED_ID 11683385, 12648212, 14968112, 16831889, 17975119, 19023099, 20346438, 20379614, 21188418, 21565611, 23533145, 24714551,
SMART SM01391,
UP_KEYWORDS Coiled coil, Complete proteome, Disease mutation, Ectodermal dysplasia, Hypotrichosis, Intermediate filament, Keratin, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Keratin, type II cytoskeletal 74, compositionally biased region:Gly-rich, modified residue, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Rod, region of interest:Tail, sequence variant, site:Stutter,
UP_TISSUE Scalp,
3856 keratin 8(KRT8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000170421,
GAD_DISEASE Alzheimer's disease , Crohn's disease ulcerative colitis, Drug-Induced Liver Injury|Liver Failure, Acute, Hepatitis C, Chronic|Liver Cirrhosis, Liver Cirrhosis, Biliary, liver disease, chronic, Pancreatitis, Pancreatitis, Alcoholic,
GOTERM_BP_DIRECT viral process, tumor necrosis factor-mediated signaling pathway, sarcomere organization, response to hydrostatic pressure, response to other organism, cell differentiation involved in embryonic placenta development, extrinsic apoptotic signaling pathway, hepatocyte apoptotic process,
GOTERM_CC_DIRECT nucleus, nucleoplasm, cytoplasm, intermediate filament, cell-cell junction, dystrophin-associated glycoprotein complex, nuclear matrix, Z disc, sarcolemma, costamere, keratin filament, extracellular exosome,
GOTERM_MF_DIRECT structural molecule activity, protein binding, protein complex binding, scaffold protein binding,
INTERPRO Intermediate filament protein, Type II keratin, Prefoldin, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL KRT8,
OMIM_DISEASE Cirrhosis, cryptogenic, Cirrhosis, noncryptogenic, susceptibility to,
PFAM Intermediate filament protein,
PUBMED_ID 10809736, 10852826, 10954706, 11076863, 11372009, 11581269, 11684708, 11781324, 11788583, 11790298, 11923318, 12168793, 12218095, 12235123, 12366696, 12367790, 12388748, 12429849, 12474161, 12477932, 12577067, 12724528, 12868678, 1371500, 1374067, 14556659, 14568682, 14756564, 15090596, 15194421, 15235035, 15248378, 15252834, 15314064, 15319370, 15368451, 15489334, 15489336, 15529338, 15731013, 15737616, 15822942, 15838910, 15846844, 15952740, 15972820, 16000376, 16083285, 16143128, 16169070, 16212417, 16327287, 16341674, 16344560, 16381901, 16565220, 16608857, 16818723, 16831889, 16892178, 1690513, 1691124, 16911694, 1692965, 16944923, 16964243, 17034788, 17039343, 1705144, 17081983, 1711732, 17126832, 17213200, 17353931, 17373842, 17509943, 17954264, 18236071, 18343496, 18353540, 18432282, 18497550, 18577580, 18725232, 18941637, 18953437, 19032382, 19115206, 19188445, 19190970, 19199708, 19204726, 19246484, 19282868, 19380743, 19419944, 19585610, 19615732, 19738201, 19755983, 19845941, 20098747, 20109457, 20348541, 20398190, 20508642, 20530580, 20538000, 20587546, 20618440, 20659422, 20729549, 20808760, 20817646, 20926822, 20936779, 21149639, 21548936, 21565611, 21630459, 21705376, 21743057, 21900206, 21988832, 22038833, 22114688, 22119785, 22270320, 22304920, 22344252, 22354665, 22379894, 22412904, 22419260, 22458338, 22623428, 22677743, 22853896, 22939629, 23078008, 23164509, 23327593, 23341946, 23358244, 23398456, 23438482, 23449973, 23533145, 23801880, 23940030, 23990477, 24003221, 24115814, 24166186, 24183726, 24327340, 24337577, 24338534, 2434381, 24457600, 2456993, 2459839, 2467436, 2471065, 2482017, 24915158, 24930437, 25113562, 25120060, 25416956, 25724181, 25963979, 26167880, 26277397, 26280121, 26286715, 26496610, 26847082, 26876307, 6186379, 8037842, 8125298, 8895530, 9054461, 9150948, 9211903, 9409741, 9459484, 9560222, 9630597, 9988531,
SMART SM01391,
UP_KEYWORDS Acetylation, Alternative splicing, Coiled coil, Complete proteome, Cytoplasm, Direct protein sequencing, Disease mutation, Glycoprotein, Host-virus interaction, Intermediate filament, Isopeptide bond, Keratin, Methylation, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:Keratin, type II cytoskeletal 8, compositionally biased region:Ser-rich, modified residue, mutagenesis site, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Necessary for interaction with PNN, region of interest:Rod, region of interest:Tail, sequence conflict, sequence variant, site:Stutter,
UP_TISSUE Colon, Colon carcinoma, Epithelium, Kidney, Liver, Lung, Placenta,
3887 keratin 81(KRT81) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000205426,
GOTERM_CC_DIRECT extracellular space, keratin filament,
GOTERM_MF_DIRECT structural molecule activity, protein binding,
INTERPRO Intermediate filament protein, Type II keratin, Insulin-like growth factor binding protein, N-terminal, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL KRT81,
OMIM_DISEASE Monilethrix,
PFAM Intermediate filament protein,
PUBMED_ID 10692104, 11792552, 12477932, 14520698, 15231748, 15489334, 15797458, 16189514, 16831889, 18021261, 19380743, 19615732, 19738201, 21516116, 21799879, 22539802, 23088713, 23438482, 23580065, 24530479, 25416956, 25557232, 25716425, 7490069, 7528047, 7556444, 9402962, 9457912, 9665406,
SMART SM01391,
UP_KEYWORDS Coiled coil, Complete proteome, Disease mutation, Intermediate filament, Keratin, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Keratin, type II cuticular Hb1, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Rod, region of interest:Tail, sequence conflict, sequence variant,
UP_TISSUE Lung, Mammary carcinoma, Scalp,
85442 kinase non-catalytic C-lobe domain containing 1(KNDC1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000171798,
GAD_DISEASE Alzheimer's disease , Body Height,
GOTERM_BP_DIRECT positive regulation of protein phosphorylation, small GTPase mediated signal transduction, cerebellar granule cell differentiation, positive regulation of GTPase activity, regulation of dendrite morphogenesis,
GOTERM_CC_DIRECT intracellular, dendrite, guanyl-nucleotide exchange factor complex, neuronal cell body,
GOTERM_MF_DIRECT Ras guanyl-nucleotide exchange factor activity,
INTERPRO Ras-like guanine nucleotide exchange factor, N-terminal, Guanine-nucleotide dissociation stimulator CDC25, Protein kinase-like domain, KIND, Ras guanine nucleotide exchange factor, domain,
OFFICIAL_GENE_SYMBOL KNDC1,
PFAM RasGEF domain, RasGEF N-terminal motif,
PUBMED_ID 11214970, 12477932, 16344560, 16385451, 16751776, 21145461, 21150319, 24788352, 26673895,
SMART RasGEF, RasGEFN, KIND,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Guanine-nucleotide releasing factor, Phosphoprotein, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Protein very KIND, compositionally biased region:Pro-rich, domain:KIND 1, domain:KIND 2, domain:N-terminal Ras-GEF, domain:Ras-GEF, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Brain cortex, Cerebellum, Spleen,
10749 kinesin family member 1C(KIF1C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000129250,
GOTERM_BP_DIRECT retrograde vesicle-mediated transport, Golgi to ER, microtubule-based movement, cytoskeleton-dependent intracellular transport,
GOTERM_CC_DIRECT endoplasmic reticulum, Golgi apparatus, kinesin complex, microtubule,
GOTERM_MF_DIRECT motor activity, microtubule motor activity, protein binding, ATP binding, microtubule binding, ATPase activity, poly(A) RNA binding,
INTERPRO Forkhead-associated (FHA) domain, Kinesin, motor domain, SMAD/FHA domain, Kinesin, motor region, conserved site, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL KIF1C,
OMIM_DISEASE Spastic ataxia 2, autosomal recessive,
PFAM Kinesin motor domain, FHA domain,
PUBMED_ID 10559254, 12477932, 15489334, 16554367, 16964243, 17081983, 17273843, 17979178, 19608861, 19996280, 20360068, 20360680, 21988832, 22658674, 22681889, 23125841, 23237952, 23251661, 24255178, 24319291, 24482476, 24808017, 25151635, 25344256, 25818806, 25821985, 26496610, 9685376, 9734811,
SMART KISc,
UP_KEYWORDS 3D-structure, ATP-binding, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Methylation, Microtubule, Motor protein, Neurodegeneration, Nucleotide-binding, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Kinesin-like protein KIF1C, compositionally biased region:Pro-rich, domain:FHA, domain:Kinesin-motor, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, strand, turn,
UP_TISSUE Brain, Epithelium, Hippocampus, Testis,
26153 kinesin family member 26A(KIF26A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000066735,
GAD_DISEASE Pancreatic Neoplasms, Stroke, Waist Circumference,
GOTERM_BP_DIRECT regulation of cell growth by extracellular stimulus, retrograde vesicle-mediated transport, Golgi to ER, microtubule-based movement, axon guidance, protein localization, negative regulation of signal transduction, antigen processing and presentation of exogenous peptide antigen via MHC class II, cytoskeleton-dependent intracellular transport, enteric nervous system development,
GOTERM_CC_DIRECT cytosol, kinesin complex, microtubule,
GOTERM_MF_DIRECT microtubule motor activity, ATP binding, microtubule binding, ATP-dependent microtubule motor activity, plus-end-directed, ATPase activity,
INTERPRO Kinesin, motor domain, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL KIF26A,
PFAM Kinesin motor domain,
PUBMED_ID 10574462, 11416179, 12477932, 17620599, 19914172, 20936779, 26496610,
SMART KISc,
UP_KEYWORDS ATP-binding, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Microtubule, Motor protein, Nucleotide-binding, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Kinesin-like protein KIF26A, domain:Kinesin-motor, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict,
UP_TISSUE Brain, Epithelium, Ileal mucosa, Muscle, Testis,
84823 lamin B2(LMNB2) Related Genes Homo sapiens
BIOCARTA Caspase Cascade in Apoptosis, FAS signaling pathway ( CD95 ), HIV-I Nef, TNFR1 Signaling Pathway,
ENSEMBL_GENE_ID ENSG00000176619,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_CC_DIRECT nuclear inner membrane, lamin filament,
GOTERM_MF_DIRECT structural molecule activity,
INTERPRO Lamin Tail Domain, Intermediate filament protein, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL LMNB2,
OMIM_DISEASE Lipodystrophy, partial, acquired, susceptibility to, Epilepsy, progressive myoclonic, 9,
PFAM Intermediate filament protein, Lamin Tail Domain,
PUBMED_ID 10806082, 10835276, 10960149, 11207047, 11691994, 12477932, 12902329, 1291239, 12912926, 15024083, 15057824, 15284226, 15489334, 15611042, 15910003, 1630457, 16341674, 16543417, 16826530, 17070523, 17081983, 17290216, 19165527, 19322201, 1939065, 19759913, 19913121, 20004208, 20309963, 20628086, 21400569, 22412018, 22586326, 22768673, 23383273, 23398456, 23475125, 23874603, 2406262, 24457600, 24711643, 24778252, 2544227, 25476789, 25477337, 25609649, 25659154, 25752541, 25921289, 25954030, 25969425, 26186194, 26344197, 26460568, 26496610, 3515346, 8543011, 924328, 9243284, 9436978, 9490046,
SMART SM01391,
UP_KEYWORDS 3D-structure, Acetylation, Coiled coil, Complete proteome, Direct protein sequencing, Disease mutation, Epilepsy, Intermediate filament, Isopeptide bond, Lipoprotein, Membrane, Methylation, Nucleus, Phosphoprotein, Polymorphism, Prenylation, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:Lamin-B2, compositionally biased region:Asp/Glu-rich (highly acidic; could be involved in chromatin binding), lipid moiety-binding region:S-farnesyl cysteine, modified residue, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2, region of interest:Head, region of interest:Linker 1, region of interest:Linker 2, region of interest:Rod, region of interest:Tail, sequence conflict, sequence variant, short sequence motif:Nuclear localization signal,
UP_TISSUE Epithelium, Fetal brain cortex, Muscle,
90506 leucine rich repeat containing 46(LRRC46) Related Genes Homo sapiens
COG_ONTOLOGY Function unknown,
ENSEMBL_GENE_ID ENSG00000141294,
GOTERM_BP_DIRECT regulation of protein stability, positive regulation of protein targeting to mitochondrion,
INTERPRO Leucine-rich repeat, Leucine-rich repeat, typical subtype,
OFFICIAL_GENE_SYMBOL LRRC46,
PUBMED_ID 12477932, 15489334, 16344560, 17207965, 24270810, 26186194, 8889548,
SMART LRR_TYP,
UP_KEYWORDS Coiled coil, Complete proteome, Leucine-rich repeat, Phosphoprotein, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Leucine-rich repeat-containing protein 46, repeat:LRR 1, repeat:LRR 2, repeat:LRR 3, repeat:LRR 4,
UP_TISSUE Ovary, Testis,
26018 leucine rich repeats and immunoglobulin like domains 1(LRIG1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000144749,
GAD_DISEASE Coronary Artery Disease, Heart Function Tests, Tobacco Use Disorder, Triglycerides,
GOTERM_BP_DIRECT sensory perception of sound, otolith morphogenesis, innervation,
GOTERM_CC_DIRECT integral component of membrane,
INTERPRO Leucine-rich repeat-containing N-terminal, Cysteine-rich flanking region, C-terminal, Leucine-rich repeat, Leucine-rich repeat, typical subtype, Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin I-set, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL LRIG1,
PFAM Leucine rich repeat C-terminal domain, Immunoglobulin I-set domain, Leucine rich repeat,
PUBMED_ID 11414704, 12067728, 12234026, 12477932, 12684867, 14520461, 15282549, 15345710, 15489334, 16168117, 16877544, 17178829, 17624990, 17851870, 18037903, 18542056, 18922900, 19300910, 19490591, 20379614, 21076409, 21087604, 21128282, 21431282, 21632100, 21821674, 21909108, 22241084, 22464327, 22484910, 22528225, 22554477, 22797727, 23124613, 23165628, 23208509, 23208928, 23383273, 23581227, 23624915, 23648065, 23723069, 23850692, 24314030, 24324551, 24548859, 24554482, 24709893, 24828152, 24879564, 25449296, 25695283, 25794708, 25801120, 25813475, 25860915, 25960225, 26148232, 26159916, 26186194, 26632716, 8798419,
SMART LRRNT, LRRCT, LRR_TYP, IGc2, IG,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Leucine-rich repeat, Membrane, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Leucine-rich repeats and immunoglobulin- like domains protein 1, compositionally biased region:Poly-Ser, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, domain:Ig-like C2-type 3, glycosylation site:N-linked (GlcNAc...), repeat:LRR 1, repeat:LRR 10, repeat:LRR 11, repeat:LRR 12, repeat:LRR 13, repeat:LRR 14, repeat:LRR 15, repeat:LRR 16, repeat:LRR 17, repeat:LRR 2, repeat:LRR 3, repeat:LRR 4, repeat:LRR 5, repeat:LRR 6, repeat:LRR 7, repeat:LRR 8, repeat:LRR 9, sequence conflict, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Lymph, Placenta, Uterus,
128077 limb and CNS expressed 1 like(LIX1L) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000271601,
GOTERM_BP_DIRECT autophagosome maturation,
GOTERM_CC_DIRECT cytoplasm,
OFFICIAL_GENE_SYMBOL LIX1L,
PFAM Limb expression 1,
PUBMED_ID 12477932, 15489334, 19710173, 22658674, 26186194, 26310847, 26344197,
UP_KEYWORDS Complete proteome, Reference proteome,
UP_SEQ_FEATURE chain:LIX1-like protein,
UP_TISSUE Melanoma, Ovary,
3107 major histocompatibility complex, class I, C(HLA-C) Related Genes Homo sapiens
BBID 70.Signal_peptides_(MHC)_class_I_molecules,
ENSEMBL_GENE_ID ENSG00000204525,
GAD_DISEASE Abortion, Habitual|Abortion, Spontaneous|Autoimmune Diseases, Abortion, Habitual|Pre-Eclampsia, Abortion, Spontaneous, Acquired Immunodeficiency Syndrome|HIV Infections, acute GVHD, AHG deficiency disease|Hemophilia A, AIDS progression, Alcoholism|Diabetes mellitus type II|Diabetes Mellitus, Type 2|pancreatic neoplasm|Pancreatic Neoplasms, alopecia areata, alveolar echinococcosis, alveolitis, extrinsic allergic, ankylosing spondylitis, Arthritis, Psoriatic, Arthritis, Psoriatic|Arthritis, Reactive|Psoriasis, Arthritis, Psoriatic|Diseases in Twins|Psoriasis|Psoriatic arthropathy, Arthritis, Psoriatic|Psoriasis, Arthritis, Psoriatic|Psoriasis|Psoriatic arthropathy, Arthritis, Psoriatic|Psoriasis|Psoriatic arthropathy|Tenosynovitis, Arthritis, Psoriatic|Psoriatic arthropathy, Arthritis, Rheumatoid, Arthritis, Rheumatoid|Rheumatoid Arthritis|Vasculitis, arthrofibrosis, Asthma, Asthma|Nasal Polyps, Asthma|Occupational Diseases, Atopy, autism, Autoimmune Diseases, Autoimmune Diseases|Cholangitis, Sclerosing, Autoimmune Diseases|Gastritis, Autoimmune Diseases|Myositis, Axial Spondyloarthropathy, B-Cell Lymphomas|Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's, Behcet Syndrome, Behcet Syndrome|, Behcet's disease, beta Thalassemia|beta-Thalassemia|Graft vs Host Disease, Bites and Stings|BITES STINGS|Hypersensitivity, bone marrow transplantation, Brain Neoplasms|Glioblastoma, Brain Neoplasms|Glioma, Breast Cancer, breast cancer , carbamazepine, Carcinoma, Hepatocellular|Hepatitis C, Chronic|Liver Cirrhosis|Liver Neoplasms|Recurrence, Carcinoma, Papillary|Thyroid Neoplasms, Carcinoma, Squamous Cell|Cervical Neoplasm|Papillomavirus Infections|Squamous cell carcinoma|Tumor Virus Infections|Uterine Cervical Neoplasms, Carcinoma|Nasopharyngeal Neoplasms, Carcinoma|thyroid neoplasm|Thyroid Neoplasms, Celiac disease, celiac disease; Wegener's granulomatosis; cervical cancer, cervical cancer, Cervical Neoplasm|Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms, Cervical Neoplasm|Uterine Cervical Neoplasms, Chagas Cardiomyopathy, Cholangitis, Sclerosing|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases|Liver Cirrhosis, Chorioretinitis|, Chronic renal failure|Kidney Failure, Chronic, Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Pregnancy Complications, Conjunctivitis|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome|Toxic Epidermal Necrolysis, Coronary Aneurysm|Mucocutaneous Lymph Node Syndrome, Cyclophosphamide, cytokine resposne, Cytomegalovirus Infections, Cytomegalovirus Infections|Postoperative Complications, Dengue, Dengue|Dengue Fever, Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 1|, Diabetes Mellitus|Hepatitis C|Liver Diseases, diabetes, type 1, diabetes, type 1 , diabetes, type 2; diabetes, type 1, Drug Hypersensitivity|HIV Infections, Drug Hypersensitivity|Urticaria, Drug Toxicity|Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome|Toxic Epidermal Necrolysis, Endometriosis, Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome, Epidermal Necrolysis, Toxic|Stevens-Johnson Syndrome|Toxic Epidermal Necrolysis, Epstein-Barr Virus Infections|Infectious mononucleosis, Esophageal Neoplasms|Oesophageal neoplasm, Exanthema|HIV Infections, Eye Diseases|Stevens-Johnson Syndrome, Fibrosis, Glioblastoma, Goiter, Nodular, Gonorrhea, Graft vs Host Disease, Graft vs Host Disease|Hematologic Neoplasms, Graft vs Host Disease|Leukemia, Graft vs Host Disease|Leukemia, Myeloid, Acute, Graft vs Host Disease|Leukemia|Leukemia, Myeloid|Myeloid Leukemia|Neoplasm Recurrence, Local, Graft vs Host Disease|Leukemia|Leukemia, Myeloid|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Graft vs Host Disease|Leukemia|Multiple Myeloma|Recurrence, Graft vs Host Disease|Leukemia|Recurrence, Graft vs Host Disease|Recurrence, graft-versus-host disease, graft-versus-host disease; psoriasis; celiac disease, H. pylori infection, head and neck cancer, Helicobacter Infections|Stomach Neoplasms, Hematologic Neoplasms, Hematologic Neoplasms|Recurrence, hematopoietic stem cell transplantation, Hemoglobinuria, Paroxysmal, Hemophilia A|Hemophilia B, hepatitis B, Hepatitis B, Chronic, hepatitis C, hepatitis C sicca syndrome, hepatitis C, chronic, Hepatitis C, Chronic|Substance-Related Disorders|Viremia, hepatitis C; hepatitis B, Hepatitis C|Hepatitis C, Chronic|Substance Abuse, Intravenous|Viremia, Hepatitis C|Remission, Spontaneous, Hepatitis C|Substance Abuse, Intravenous, hepatitis, autoimmune, Hepatitis, Autoimmune|Liver Cirrhosis, HIV, HIV Infections, HIV Infections|[X]Human immunodeficiency virus disease, HIV Infections|Lipodystrophy|[X]Human immunodeficiency virus disease, HIV Infections|Viremia, HIV-1 control, HTLV-I Infections|Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis, HTLV-I Infections|Spinal Cord Diseases, Hypersensitivity|Skin Diseases, Infection|Leg Dermatoses|Nail Diseases|Psoriasis|Scalp Dermatoses|Wounds and Injuries, Inflammation|Myositis, keloids, kidney transplant complications, kidney transplantation, Leprosy, Leptospirosis|Swamp fever, leukemia, Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Leukemia, Myeloid, Acute|Recurrence, leukemia; colorectal cancer, liver transplant, Lung Cancer, lung cancer , Lupus, lupus erythematosus, Lupus Erythematosus, Systemic, lymphoma, Lymphoma, Non-Hodgkin, Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's, malaria, plasmodium falciparum, marrow graft rejection, maternal microchimerism, melanoma, Melanoma|Skin Neoplasms, Mucocutaneous Lymph Node Syndrome, Multiple Sclerosis, Multiple Sclerosis, Relapsing-Remitting, Multiple Sclerosis|Neuromyelitis Optica, myasthenia gravis, Nasopharyngeal Neoplasms, Neuroblastoma, nevirapine-induced rash-HIV, normal variation, null, Obesity|Psoriasis, Ophthalmia, Sympathetic, Oral Submucous Fibrosis, Osteoporosis, Postmenopausal, ovarian cancer, pancreatitis, autoimmune; pancreatitis, chronic calcifying, Paraparesis, Tropical Spastic|Tropical Spastic Paraparesis, pegylated interferon/ribavirin therapy, Pemphigus, Penile Induration|Peyronie Disease, periodontitis, pharmacogenetic studies, Pharyngitis|Psoriasis|Recurrence|Streptococcal Infections, Pharyngitis|Psoriasis|Streptococcal Infections, pityriasis rosea, pregnancy loss, recurrent, protein quantitative trait loci, Psoriasis, psoriasis psoriatic arthritis, psoriasis vulgaris, psoriasis; celiac disease, psoriasis; psoriatic arthritis, psoriatic arthritis, respiratory papillomatosis, Rheumatic Diseases|Spondylitis, Ankylosing, Rheumatic Heart Disease, Rheumatoid spondylitis|Spondylitis, Ankylosing, rubella vaccination, rubella vaccine, rubella vaccine response, Sarcoidosis, schizophrenia | bipolar disorder, Scleroderma, Systemic|Systemic Scleroderma, Sjogren's syndrome, Spondylarthritis, Spondylitis, Ankylosing, spondyloarthropathies, stem cell transplantation outcome, Tuberculosis, Typhoid Fever, ulcerative colitis, Urticaria, uveitis, Uveomeningoencephalitic Syndrome, Vitiligo,
GOTERM_BP_DIRECT antigen processing and presentation of peptide antigen via MHC class I, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent, antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent, antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent, immune response, viral process, antigen processing and presentation, innate immune response, regulation of immune response, interferon-gamma-mediated signaling pathway, type I interferon signaling pathway,
GOTERM_CC_DIRECT Golgi membrane, extracellular region, endoplasmic reticulum, Golgi apparatus, plasma membrane, integral component of plasma membrane, cell surface, ER to Golgi transport vesicle membrane, membrane, integral component of membrane, phagocytic vesicle membrane, early endosome membrane, MHC class I protein complex, MHC class II protein complex, extracellular exosome, integral component of lumenal side of endoplasmic reticulum membrane,
GOTERM_MF_DIRECT antigen binding, MHC class II receptor activity, peptide antigen binding, TAP binding,
INTERPRO MHC class II, beta chain, N-terminal, MHC class I, alpha chain, alpha1/alpha2, Immunoglobulin/major histocompatibility complex, conserved site, Immunoglobulin C1-set, Immunoglobulin-like domain, MHC class I, alpha chain, C-terminal, MHC class I-like antigen recognition, MHC classes I/II-like antigen recognition protein, Immunoglobulin-like fold, MHC class II, alpha/beta chain, N-terminal,
KEGG_PATHWAY Endocytosis, Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Type I diabetes mellitus, HTLV-I infection, Herpes simplex infection, Epstein-Barr virus infection, Viral carcinogenesis, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Viral myocarditis,
OFFICIAL_GENE_SYMBOL HLA-C,
OMIM_DISEASE Psoriasis susceptibility 1, HIV-1 viremia, susceptibility to,
PFAM Class I Histocompatibility antigen, domains alpha 1 and 2, Class II histocompatibility antigen, beta domain, MHC_I C-terminus, Immunoglobulin C1-set domain,
PUBMED_ID 10090622, 10190900, 10323347, 10366557, 10372547, 10395103, 10395115, 10429675, 10488744, 10497191, 10546855, 1055432, 10647885, 10684310, 10703619, 10707087, 10715516, 10799863, 10809759, 10820396, 10850706, 10885573, 10898498, 10912513, 10954160, 10982373, 11009104, 11053636, 11061291, 11064107, 11120862, 11122018, 11144289, 11163076, 11169240, 11169242, 11169245, 11172020, 11181188, 11182228, 11222331, 11289809, 11323700, 11348465, 11390038, 11390039, 11390610, 11463741, 11543892, 11543893, 11543903, 11574100, 11578695, 11696223, 11751963, 11841366, 11861287, 11875053, 11888582, 11904677, 11927505, 11932387, 11967296, 11972879, 11972880, 11984513, 12010826, 12011375, 12022360, 12028535, 12039411, 12072195, 12100686, 12107410, 12115024, 12148091, 12195346, 12296785, 12352262, 12372094, 12392856, 12414957, 12427289, 12445315, 12445319, 12454284, 12472657, 12472658, 12477932, 12492817, 12505198, 12526811, 12574356, 12574360, 12588373, 12590984, 12594841, 12619017, 12622774, 12648281, 12651075, 12665835, 12709815, 12730526, 12734410, 12753667, 12774051, 12776912, 12794140, 12825172, 12836198, 12853576, 12857887, 12870022, 12899833, 12941076, 12956875, 12962836, 12975536, 1316930, 1317015, 1383381, 1384166, 14501786, 14501803, 14527733, 14551034, 14581545, 14595379, 14617038, 14617049, 14626512, 14674935, 14675183, 14700599, 14705982, 14705987, 14716759, 14719207, 14727382, 14965316, 15009803, 15009808, 15057902, 15061705, 15072129, 15078178, 15086350, 15122136, 15124939, 15128924, 15140030, 15140038, 15191522, 15191523, 15191952, 15211110, 15214895, 15220037, 15239092, 15245373, 15245377, 15245541, 15251317, 15297676, 15300630, 15301865, 15304010, 15307871, 15310528, 15316337, 15321756, 15323271, 15361135, 15480178, 15496201, 15523160, 15534563, 15535834, 15539411, 15546341, 15554365, 15603879, 15638726, 15639927, 15650879, 15654959, 15654960, 15662734, 15683420, 15737195, 15743917, 15751651, 15807454, 15848982, 15853898, 15854032, 15896208, 15896209, 15940053, 15943912, 15953084, 15982258, 15982262, 1598685, 16019679, 16026588, 16029332, 16029431, 16086295, 16091223, 16097034, 16101836, 16103458, 16129034, 16185272, 16185325, 16185849, 16196087, 16215732, 16216678, 16235096, 16267409, 16272310, 16272320, 16281939, 16284396, 16297191, 16313304, 16331510, 16331567, 16339849, 16365741, 16405603, 16439971, 16441500, 16451198, 16455884, 16459714, 16489264, 16490887, 16532020, 16532100, 16571411, 16609350, 16634885, 16642438, 16702430, 16720212, 16720218, 16774550, 16788244, 16829306, 16857416, 16866883, 16890179, 16922942, 16929347, 16947780, 17021767, 17026471, 17029201, 17062033, 17082605, 17085834, 17092264, 17101473, 17106278, 1711567, 17117954, 17166285, 17170457, 17197830, 17207712, 17212710, 17223660, 17234427, 17252545, 17258541, 17309450, 17311253, 17317585, 17340018, 17373939, 17378697, 17383044, 17388919, 17389029, 17392574, 17407088, 17462511, 17462512, 17471440, 17480220, 17489060, 17491685, 17498269, 17504510, 17509453, 17523949, 17530646, 17554059, 17573956, 17578051, 17581864, 17586321, 17597093, 17598037, 17604825, 17604883, 17617375, 17632197, 17632570, 17641165, 17652849, 17661908, 17666781, 17714418, 17726164, 17728335, 17785583, 17868255, 17869653, 17878941, 17878955, 17900288, 17909631, 17911430, 17927716, 17939409, 17950922, 17956696, 17964196, 17971052, 17971053, 17990989, 17997746, 18005090, 18005680, 18005690, 18057255, 18064508, 18069932, 18070207, 18074415, 18075513, 18082573, 18086267, 18086268, 18091530, 18097038, 18186800, 18219280, 18263639, 18289678, 18296443, 18297378, 18301962, 18309376, 18315912, 18329312, 18332066, 18340360, 18347914, 18364390, 18364739, 18369457, 18369459, 18381784, 18385790, 18396213, 18420581, 18434400, 18438604, 18451182, 18464913, 18486765, 18496418, 18515573, 18521626, 18523244, 18543232, 18544086, 18566368, 18571006, 18580606, 18585007, 18596105, 18627572, 18643961, 18653452, 18671674, 18672082, 18673537, 18684953, 18702622, 18725938, 18768435, 18778326, 18782112, 18800148, 18808677, 18848853, 18852273, 18922348, 18958335, 18976432, 18976440, 18982067, 18987136, 18997170, 19000140, 19019964, 19023492, 19032228, 19046302, 19050382, 19054371, 19096254, 19104471, 19115949, 19120281, 19143812, 19143818, 19149577, 19159415, 19169253, 19169254, 19169284, 19180512, 19181658, 19184033, 19196481, 19200828, 19200845, 19214504, 19227412, 19232441, 19242058, 19246116, 19262574, 19275586, 19276793, 19299434, 19326408, 19349081, 19350523, 19364514, 19392983, 19407364, 19409091, 19449444, 19480679, 19480851, 19487887, 19493232, 19493233, 19525279, 19539218, 19544559, 19549379, 19552960, 19555986, 19571811, 19574026, 19589487, 19620980, 19630074, 19631389, 19643141, 19653987, 19654407, 19654877, 19656140, 19663693, 19663932, 19667963, 19668019, 19680446, 19683555, 19693088, 19694795, 19703234, 19720873, 19728333, 19744147, 19758198, 19762282, 19770068, 19774073, 19776241, 19789864, 19830740, 19843037, 19845915, 19845952, 19846535, 19847956, 19850842, 19851445, 19861144, 19874367, 19896518, 19898503, 19907433, 19912639, 19924143, 19925877, 19931565, 19932885, 19934297, 19935663, 19936734, 19956635, 19968064, 20003137, 2000377, 20012522, 20012528, 20016497, 20041166, 20056126, 20065064, 20073992, 20077564, 20082482, 20082621, 20090103, 20097244, 20137308, 20145915, 20169624, 20173784, 20173792, 20193031, 20200544, 20210918, 20210919, 20219611, 20224785, 20230525, 20235791, 20237496, 20331378, 20334121, 20335219, 20347497, 20356536, 20380698, 20385791, 20416195, 20426625, 20456039, 20458337, 20462405, 20463068, 20466636, 20483367, 20492592, 20492596, 20492599, 20504258, 20512145, 20519398, 20526339, 20536993, 20547040, 20549830, 20559009, 20561448, 20574122, 20580654, 20587610, 20594957, 20595243, 20600442, 20604894, 20608062, 20613458, 20626025, 20637045, 20643584, 20652381, 20660184, 20668555, 20678810, 20684489, 20702582, 20713950, 20739527, 20798335, 20857097, 20923372, 20931685, 20935224, 20937338, 20946353, 20953186, 20953188, 20953190, 20970669, 20972337, 20974205, 21049023, 21051598, 21059899, 21068258, 21084992, 21107349, 21134695, 21165790, 21179506, 21209113, 21248048, 21352198, 21373785, 21410657, 21412248, 21482733, 21482738, 21543478, 21585707, 21625020, 21658009, 21699788, 21712058, 21726808, 21732917, 21738480, 21762823, 21778700, 21797986, 21860345, 21861776, 21896007, 21909837, 21912425, 21912600, 21920398, 21931540, 21958371, 21985130, 21988832, 22031944, 22035606, 22069276, 22074999, 22099809, 22103831, 22103833, 22103834, 22113476, 22125590, 22175768, 22185807, 22190034, 22194166, 22219647, 22251067, 22268729, 22301137, 22301152, 22319020, 22321328, 22474021, 22493691, 22503975, 22509813, 22510299, 22512642, 22537596, 22548719, 22553319, 22569429, 22586163, 22651890, 22678362, 22705789, 22767237, 22772445, 22803655, 22807681, 22826228, 22844345, 22923333, 22931314, 22931917, 22958291, 22980333, 23028341, 23042114, 23128233, 23144326, 23177929, 23184486, 23200758, 23246585, 23289738, 23330836, 23362284, 23376485, 23390293, 23398510, 23417110, 23462218, 23490051, 23521149, 23536655, 23559252, 23563607, 23588886, 23798571, 23817569, 23817571, 23838325, 23847689, 23853074, 23853598, 23901134, 23935489, 23974321, 23990973, 24006284, 24023945, 24041011, 24046013, 24158818, 24162738, 24227846, 24248364, 24324648, 24349500, 24400003, 24408320, 24495362, 2450918, 24554773, 24566686, 24651768, 24711643, 24717292, 24748005, 24755350, 24759677, 24778445, 24785948, 24791935, 24818561, 24842861, 24904546, 24911933, 24951171, 24965469, 24986480, 24990997, 25083782, 25188020, 25193656, 25237729, 25275127, 25278127, 25323824, 25329633, 25367742, 25454626, 25493653, 25495410, 25581336, 25589651, 25620704, 25626601, 25633660, 25666956, 25693804, 25701112, 25714001, 25715101, 25754738, 25781986, 25794162, 25814554, 25827531, 25844609, 25894195, 25960307, 25972545, 26068923, 26186194, 26262501, 26372271, 26383988, 26389662, 26416275, 26496610, 26600554, 26613595, 26828202, 2708822, 2714853, 2715640, 2787363, 2789433, 2843461, 3032784, 3485286, 3863816, 6585830, 6591601, 6609813, 7482492, 7499177, 7539755, 7621073, 7650491, 7677956, 7760000, 7839353, 7860363, 7871529, 7897214, 7905471, 7913356, 7957306, 7983384, 8082899, 8084338, 8225443, 8493575, 8612235, 8613148, 8617941, 8655361, 8671651, 8692965, 8769474, 8773323, 8795149, 8805302, 8877415, 8883300, 9008313, 9052838, 9089103, 9098935, 9104816, 9120272, 9153759, 9158158, 9177776, 9190911, 9211742, 9234483, 9234488, 9263011, 9293775, 9373155, 9373217, 9378975, 9435339, 9455497, 9459506, 9459510, 9464792, 9521070, 9551969, 9582271, 9586638, 9601942, 9672159, 9686591, 9686604, 9698101, 9751712, 9754572, 9768753, 9840288, 9894855, 9894860,
SMART IGc1, SM00921,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell membrane, Complete proteome, Disulfide bond, Glycoprotein, Host-virus interaction, Immunity, Membrane, MHC I, Polymorphism, Proteomics identification, Reference proteome, Secreted, Signal, Transmembrane, Transmembrane helix, Ubl conjugation,
UP_SEQ_FEATURE chain:extracellular part of HLA-Cw6, chain:HLA class I histocompatibility antigen, B-13 alpha chain, chain:HLA class I histocompatibility antigen, B-14 alpha chain, chain:HLA class I histocompatibility antigen, B-15 alpha chain, chain:HLA class I histocompatibility antigen, B-18 alpha chain, chain:HLA class I histocompatibility antigen, B-27 alpha chain, chain:HLA class I histocompatibility antigen, B-35 alpha chain, chain:HLA class I histocompatibility antigen, B-37 alpha chain, chain:HLA class I histocompatibility antigen, B-38 alpha chain, chain:HLA class I histocompatibility antigen, B-39 alpha chain, chain:HLA class I histocompatibility antigen, B-40 alpha chain, chain:HLA class I histocompatibility antigen, B-41 alpha chain, chain:HLA class I histocompatibility antigen, B-42 alpha chain, chain:HLA class I histocompatibility antigen, B-44 alpha chain, chain:HLA class I histocompatibility antigen, B-46 alpha chain, chain:HLA class I histocompatibility antigen, B-49 alpha chain, chain:HLA class I histocompatibility antigen, B-51 alpha chain, chain:HLA class I histocompatibility antigen, B-52 alpha chain, chain:HLA class I histocompatibility antigen, B-53 alpha chain, chain:HLA class I histocompatibility antigen, B-54 alpha chain, chain:HLA class I histocompatibility antigen, B-55 alpha chain, chain:HLA class I histocompatibility antigen, B-57 alpha chain, chain:HLA class I histocompatibility antigen, B-58 alpha chain, chain:HLA class I histocompatibility antigen, B-7 alpha chain, chain:HLA class I histocompatibility antigen, B-73 alpha chain, chain:HLA class I histocompatibility antigen, B-78 alpha chain, chain:HLA class I histocompatibility antigen, B-8 alpha chain, chain:HLA class I histocompatibility antigen, B-81 alpha chain, chain:HLA class I histocompatibility antigen, Cw-1 alpha chain, chain:HLA class I histocompatibility antigen, Cw-12 alpha chain, chain:HLA class I histocompatibility antigen, Cw-14 alpha chain, chain:HLA class I histocompatibility antigen, Cw-16 alpha chain, chain:HLA class I histocompatibility antigen, Cw-17 alpha chain, chain:HLA class I histocompatibility antigen, Cw-2 alpha chain, chain:HLA class I histocompatibility antigen, Cw-3 alpha chain, chain:HLA class I histocompatibility antigen, Cw-4 alpha chain, chain:HLA class I histocompatibility antigen, Cw-5 alpha chain, chain:HLA class I histocompatibility antigen, Cw-6 alpha chain, chain:HLA class I histocompatibility antigen, Cw-7 alpha chain, chain:HLA class I histocompatibility antigen, Cw-8 alpha chain, chain:HLA-B*1514, chain:major histocompatibility complex class I, chain:MHC class I antigen, chain:MHC class I antigen HLA-B, chain:MHC class I HLA-B*1523, chain:MHC class I lymphocyte antigen, chain:transmembrane glycoprotein, disulfide bond, domain:Ig-like C1-type, glycosylation site:N-linked (GlcNAc...), helix, modified residue, region of interest:Alpha-1, region of interest:Alpha-2, region of interest:Alpha-3, region of interest:Connecting peptide, sequence conflict, sequence variant, signal peptide, splice variant, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region, turn,
UP_TISSUE A*01, Adrenal cortex, B-cell, B-lymphocyte, Blood, Bone marrow, Cervix, Cord blood, Eye, Heart, Hepatocyte, HLA-A*01, Leukemia, Leukocyte, Liver, Lung, Lymph, Lymphocytes, Melanoma, Peripheral blood, Peripheral blood leukocyte, Platelet, Rectum tumor, Testis, Whole blood,
3127 major histocompatibility complex, class II, DR beta 5(HLA-DRB5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000198502,
GAD_DISEASE abdominal aortic aneurysm, Abortion, Habitual|Abruptio Placentae|PLACENTA ABRUPTIO, allergy, latex; latex allergy, allergy, latex; latex allergy; pemphigoid, bullous, Arthritis, Rheumatoid|, Celiac disease, Dementia|Hallucinations|Lewy Body Disease, Diabetes Mellitus|Hepatitis C|Liver Diseases, Diabetes, Gestational, diabetes, type 1, diffuse panbonchiolitis, Echinococcosis, Encephalomyelitis, Autoimmune, Experimental|Multiple Sclerosis, HIV, HIV Infections, HIV; sclerosis, systemic, infection, post allograft, jaundice, Kaposi's sarcoma, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Lupus Erythematosus, Systemic, Lupus Erythematosus, Systemic|Systemic lupus erythematosus, malaria; schistosomiasis, Multiple Sclerosis, multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis, Narcolepsy, Parkinson's Disease, periodontitis, pityriasis rosea, pregnancy loss, Rheumatic Heart Disease, Sarcoidosis, schistosomiasis, sclerosis, systemic, systemic lupus erythematosus, Tuberculosis,
GOTERM_BP_DIRECT immunoglobulin production involved in immunoglobulin mediated immune response, inflammatory response to antigenic stimulus, humoral immune response mediated by circulating immunoglobulin, antigen processing and presentation of peptide or polysaccharide antigen via MHC class II, immune response, detection of bacterium, antigen processing and presentation, antigen processing and presentation of exogenous peptide antigen via MHC class II, T cell costimulation, regulation of interleukin-4 production, negative regulation of interferon-gamma production, positive regulation of insulin secretion involved in cellular response to glucose stimulus, T-helper 1 type immune response, negative regulation of T cell proliferation, T cell receptor signaling pathway, protein tetramerization, interferon-gamma-mediated signaling pathway, regulation of interleukin-10 secretion,
GOTERM_CC_DIRECT Golgi membrane, extracellular space, lysosomal membrane, plasma membrane, external side of plasma membrane, ER to Golgi transport vesicle membrane, membrane, integral component of membrane, transport vesicle membrane, endocytic vesicle membrane, clathrin-coated endocytic vesicle membrane, late endosome membrane, trans-Golgi network membrane, MHC class II protein complex, extracellular exosome, integral component of lumenal side of endoplasmic reticulum membrane,
GOTERM_MF_DIRECT peptide antigen binding,
INTERPRO MHC class II, beta chain, N-terminal, Immunoglobulin/major histocompatibility complex, conserved site, Immunoglobulin C1-set, Immunoglobulin-like domain, MHC classes I/II-like antigen recognition protein, Immunoglobulin-like fold, MHC class II, alpha/beta chain, N-terminal,
KEGG_PATHWAY Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis, Influenza A, HTLV-I infection, Herpes simplex infection, Asthma, Autoimmune thyroid disease, Inflammatory bowel disease (IBD), Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis,
OFFICIAL_GENE_SYMBOL HLA-DRB5,
PFAM Class II histocompatibility antigen, beta domain, Immunoglobulin C1-set domain,
PUBMED_ID 10551425, 10609818, 10661406, 10703621, 10729169, 10885571, 11034591, 11048639, 11082515, 11082517, 11118314, 11144300, 11169266, 11181188, 11181995, 11260517, 11380955, 11469465, 11555411, 11704801, 11751963, 11782380, 11798795, 11827988, 11934390, 11972886, 11997714, 12028548, 12121280, 12133402, 12144077, 12144632, 12202216, 12209103, 12230470, 12244309, 12296785, 12358860, 12392858, 12427289, 12477932, 12519789, 12652907, 12694574, 12694577, 12956878, 1428007, 14508706, 14617041, 14752708, 14989721, 15191532, 15191533, 15245378, 15489916, 15730527, 15784911, 15896200, 15902698, 15982265, 1612646, 16140993, 16305688, 16405603, 16426242, 16441501, 16502470, 16566202, 16916662, 16973583, 17106278, 17153701, 17182961, 17207965, 17411376, 17431094, 17507489, 17559577, 17652306, 17910142, 17959659, 18305173, 18520346, 18569076, 18672082, 1869305, 18713991, 18832704, 18846964, 18945465, 1905983, 19116923, 19122664, 19223392, 19235017, 19380721, 19449444, 19620308, 19663932, 1967269, 1970352, 1975801, 19770068, 1978941, 19811438, 19946888, 20012522, 20193235, 20193583, 2023919, 20307907, 20356827, 20394989, 20458337, 20606439, 20639878, 21085635, 21131588, 21297633, 21299892, 21778700, 21922073, 22033527, 2212675, 22493691, 22531795, 22723597, 22808111, 22860026, 22862923, 22888134, 23152536, 23170932, 23349640, 23535732, 23729440, 23850713, 24162737, 24366815, 24505475, 2471740, 24943344, 25108386, 2511168, 25186300, 25240755, 25365775, 2543930, 2565895, 26085212, 26186194, 26740600, 2846691, 2884201, 2885840, 3015788, 3020127, 3099214, 3129499, 3137159, 3259543, 3371836, 3456344, 3466180, 3476943, 3489470, 3571980, 7512597, 7541827, 7547576, 7602119, 7645219, 7652736, 7734415, 7974469, 8016840, 8026992, 8084338, 8168144, 8168862, 8362413, 8376762, 8450224, 8462990, 8655358, 8864175, 8988548, 9027973, 9079699, 9162096, 9223324, 9226128, 9349614, 9500545, 9777332, 9820607, 9864034,
SMART IGc1, SM00921,
UP_KEYWORDS 3D-structure, Cell membrane, Complete proteome, Direct protein sequencing, Disulfide bond, Endoplasmic reticulum, Endosome, Glycoprotein, Golgi apparatus, Immunity, Isopeptide bond, Lysosome, Membrane, MHC II, Polymorphism, Reference proteome, Signal, Transmembrane, Transmembrane helix, Ubl conjugation,
UP_SEQ_FEATURE chain:HLA class II histocompatibility antigen, DR beta 5 chain, chain:HLA class II histocompatibility antigen, DRB1-9 beta chain, disulfide bond, domain:Ig-like C1-type, glycosylation site:N-linked (GlcNAc...), helix, region of interest:Beta-1, region of interest:Beta-2, sequence conflict, sequence variant, signal peptide, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region, turn,
UP_TISSUE Blood, Cord blood, Leukocytes, Lymphocyte, Peripheral blood, Peripheral blood mononuclear cells, Synovial membrane tissue, Umbilical cord blood, Whole blood,
10905 mannosidase alpha class 1A member 2(MAN1A2) Related Genes Homo sapiens
BIOCARTA Steps in the Glycosylation of Mammalian N-linked Oligosaccarides, ER?associated degradation (ERAD) Pathway,
ENSEMBL_GENE_ID ENSG00000198162,
GAD_DISEASE Amyotrophic Lateral Sclerosis|, Electrocardiography, Tobacco Use Disorder,
GOTERM_BP_DIRECT N-glycan processing, respiratory gaseous exchange, metabolic process, lung alveolus development, Golgi apparatus mannose trimming,
GOTERM_CC_DIRECT Golgi membrane, endoplasmic reticulum, Golgi apparatus, membrane, integral component of membrane, extracellular exosome,
GOTERM_MF_DIRECT mannosyl-oligosaccharide 1,2-alpha-mannosidase activity, calcium ion binding,
INTERPRO Glycoside hydrolase, family 47,
KEGG_PATHWAY N-Glycan biosynthesis, Metabolic pathways, Protein processing in endoplasmic reticulum,
OFFICIAL_GENE_SYMBOL MAN1A2,
PFAM Glycosyl hydrolase family 47,
PUBMED_ID 10915796, 11530211, 12477932, 12560567, 14702039, 15231748, 15489334, 16344560, 16710414, 1736542, 18029348, 18987618, 19199708, 19946888, 20379614, 2187500, 2283726, 2355006, 2541446, 2542563, 26186194, 2649653, 2829950, 3099781, 3264072, 8093218, 8218172, 8673525, 8892864, 9109416, 9592125,
UP_KEYWORDS Acetylation, Calcium, Complete proteome, Disulfide bond, Glycoprotein, Glycosidase, Golgi apparatus, Hydrolase, Membrane, Metal-binding, Proteomics identification, Reference proteome, Signal-anchor, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Mannosyl-oligosaccharide 1,2-alpha- mannosidase IB, glycosylation site:N-linked (GlcNAc...), topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Brain, Placenta,
4317 matrix metallopeptidase 8(MMP8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000118113,
GAD_DISEASE atherosclerosis, Bladder Cancer, Breast Cancer, bronchiectasis, Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Melanoma|Skin Neoplasms, Carcinoma, Hepatocellular|Liver Neoplasms, Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes, Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth, Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases, H. pylori infection stomach cancer, Hepatitis C, Chronic|Liver Cirrhosis, Infection|Inflammation|Premature Birth, Inflammation|Premature Birth, Intervertebral Disk Displacement, kidney aging, Leukemia, Lymphocytic, Chronic, B-Cell, lung cancer , Oral Submucous Fibrosis, overall effect, Premature Birth, premature rupture of membranes, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT proteolysis, extracellular matrix disassembly, collagen catabolic process, endodermal cell differentiation,
GOTERM_CC_DIRECT extracellular region, proteinaceous extracellular matrix, collagen trimer, extracellular space, extracellular matrix,
GOTERM_MF_DIRECT metalloendopeptidase activity, serine-type endopeptidase activity, calcium ion binding, zinc ion binding,
INTERPRO Hemopexin-like domain, Peptidase M10, metallopeptidase, Peptidoglycan binding-like, Peptidase, metallopeptidase, Peptidase M10A, metazoans, Hemopexin, conserved site, Hemopexin-like repeats, Peptidase M10A, cysteine switch, zinc binding site, Peptidase M10A, Metallopeptidase, catalytic domain,
OFFICIAL_GENE_SYMBOL MMP8,
PFAM Hemopexin, Matrixin, Putative peptidoglycan binding domain,
PIR_SUPERFAMILY matrix metalloproteinase, stromelysin type,
PUBMED_ID 10353844, 10419448, 10859319, 10922468, 10949161, 10986281, 11400153, 11731274, 12054629, 12101112, 12117418, 12149192, 12477932, 1330697, 14550288, 15042023, 15187163, 15367487, 15489334, 15661397, 15888067, 16134994, 16192646, 16242329, 16259988, 16432074, 1646048, 1662606, 16872847, 16877349, 16928431, 16940985, 17178858, 17418871, 17473191, 17567680, 17584650, 17728507, 17932311, 17974962, 18278188, 18366705, 18428024, 18626311, 18700005, 18768525, 18818748, 18980523, 19019335, 19064570, 19074885, 19094243, 19124506, 19159011, 19180518, 19330028, 19358835, 19442604, 19460733, 19527514, 19674746, 19708869, 19745165, 19751716, 19834535, 19880617, 19913121, 19995403, 20042585, 20140262, 20184870, 20356362, 20371206, 20442866, 20452482, 20453486, 20484597, 20485444, 20587546, 20621951, 20626027, 20628086, 20659259, 20673868, 20708200, 20809029, 20889295, 21048031, 21196908, 21432777, 21437624, 21515330, 2159879, 2164002, 21642878, 2169256, 2169766, 21697883, 2176876, 21784671, 21857935, 21872914, 21906737, 21920499, 21925226, 21994255, 22092455, 22113040, 22179173, 22257687, 22311494, 22382449, 22487237, 22808470, 23054081, 23154389, 23259856, 23313321, 23442769, 23512982, 23535732, 23632023, 23851508, 23851938, 23865360, 23953866, 23962148, 23967183, 24065531, 24099107, 24164993, 24170307, 24267248, 24283658, 24651234, 24828408, 25016699, 25034366, 25087078, 25109362, 25319807, 25545245, 25550459, 25607396, 25633268, 25635689, 25712810, 25841875, 26132583, 26339374, 26462905, 26872724, 27442388, 7656015, 7998967, 8137810, 8216228, 8307185, 8397318, 8631924, 8639592, 8921407, 9042108, 9249047, 9558113, 9578462, 9655333, 9688535, 9737711,
SMART HX, ZnMc,
UP_KEYWORDS 3D-structure, Calcium, Collagen, Collagen degradation, Complete proteome, Direct protein sequencing, Disulfide bond, Extracellular matrix, Glycoprotein, Hydrolase, Metal-binding, Metalloprotease, Polymorphism, Protease, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Zinc, Zymogen,
UP_SEQ_FEATURE chain:Neutrophil collagenase, disulfide bond, domain:Hemopexin-like 1, domain:Hemopexin-like 2, domain:Hemopexin-like 3, domain:Hemopexin-like 4, glycosylation site:N-linked (GlcNAc...), helix, metal ion-binding site:Calcium 1, metal ion-binding site:Calcium 1; via carbonyl oxygen, metal ion-binding site:Calcium 2, metal ion-binding site:Calcium 2; via carbonyl oxygen, metal ion-binding site:Calcium 3; via carbonyl oxygen, metal ion-binding site:Zinc 1, metal ion-binding site:Zinc 2; catalytic, metal ion-binding site:Zinc 2; in inhibited form, propeptide:Activation peptide, sequence conflict, sequence variant, short sequence motif:Cysteine switch, signal peptide, strand, turn,
UP_TISSUE Lung, Neutrophil,
4543 melatonin receptor 1A(MTNR1A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000168412,
GAD_DISEASE autism, rheumatoid arthritis, Scoliosis, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cell surface receptor signaling pathway, G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger, mating behavior, circadian rhythm, positive regulation of cGMP biosynthetic process,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, integral component of membrane, receptor complex,
GOTERM_MF_DIRECT protein binding, melatonin receptor activity, hormone binding, organic cyclic compound binding,
INTERPRO Melatonin receptor family, G protein-coupled receptor, rhodopsin-like, Melatonin receptor 1A, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Neuroactive ligand-receptor interaction, Circadian entrainment,
OFFICIAL_GENE_SYMBOL MTNR1A,
PFAM 7 transmembrane receptor (rhodopsin family),
PUBMED_ID 10471411, 10531408, 10598579, 10612428, 1144527, 11448873, 11606436, 11841602, 11897804, 11940583, 12088876, 12477932, 12767050, 12973153, 14675129, 15266022, 15489334, 16098099, 16778767, 17072839, 17215244, 17349020, 17645699, 17803522, 18067741, 18341518, 18378672, 18452558, 18577758, 18794763, 18979234, 19001515, 19184136, 19913121, 20050373, 20110911, 20372918, 20377855, 20628086, 20657642, 20726823, 20859254, 21474908, 21497337, 21526376, 21552555, 21615493, 21635358, 21652546, 21809392, 21818375, 21994366, 22017484, 22138747, 22217986, 22686298, 23155241, 23250547, 23333399, 23725077, 24104479, 24117008, 24157813, 24724723, 25514412, 25806809, 25822611, 25833399, 25967351, 26519818, 2834384, 7558006, 7946354, 8700109, 8988899, 9645677,
SMART SM01381,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Polymorphism, Receptor, Reference proteome, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Melatonin receptor type 1A, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Leukocyte, Ovary, PCR rescued clones,
79143 membrane bound O-acyltransferase domain containing 7(MBOAT7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000125505,
GOTERM_BP_DIRECT phospholipid biosynthetic process, ventricular system development, layer formation in cerebral cortex, phosphatidylinositol acyl-chain remodeling,
GOTERM_CC_DIRECT endoplasmic reticulum membrane, membrane, integral component of membrane,
GOTERM_MF_DIRECT 1-acylglycerol-3-phosphate O-acyltransferase activity, dihydrolipoamide branched chain acyltransferase activity, protein binding, palmitoleoyl [acyl-carrier-protein]-dependent acyltransferase activity, carnitine O-acyltransferase activity, serine O-acyltransferase activity, O-acetyltransferase activity, O-octanoyltransferase activity, O-palmitoyltransferase activity, S-acetyltransferase activity, S-malonyltransferase activity, C-palmitoyltransferase activity, N-succinyltransferase activity, O-succinyltransferase activity, S-succinyltransferase activity, O-sinapoyltransferase activity, peptidyl-lysine N6-myristoyltransferase activity, peptidyl-lysine N6-palmitoyltransferase activity, benzoyl acetate-CoA thiolase activity, 3-hydroxybutyryl-CoA thiolase activity, 3-ketopimelyl-CoA thiolase activity, acyl-CoA N-acyltransferase activity, protein-cysteine S-myristoyltransferase activity, glucosaminyl-phosphotidylinositol O-acyltransferase activity, ergosterol O-acyltransferase activity, lanosterol O-acyltransferase activity, naphthyl-2-oxomethyl-succinyl-CoA succinyl transferase activity, 2,4,4-trimethyl-3-oxopentanoyl-CoA 2-C-propanoyl transferase activity, 2-methylhexanoyl-CoA C-acetyltransferase activity, butyryl-CoA 2-C-propionyltransferase activity, 2,6-dimethyl-5-methylene-3-oxo-heptanoyl-CoA C-acetyltransferase activity, L-2-aminoadipate N-acetyltransferase activity, keto acid formate lyase activity, Ras palmitoyltransferase activity, azetidine-2-carboxylic acid acetyltransferase activity, 2-acylglycerol-3-phosphate O-acyltransferase activity, peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor, acetyl-CoA:L-lysine N6-acetyltransferase,
INTERPRO Membrane bound O-acyl transferase, MBOAT,
KEGG_PATHWAY Glycerophospholipid metabolism,
OFFICIAL_GENE_SYMBOL MBOAT7,
PFAM MBOAT, membrane-bound O-acyltransferase family,
PUBMED_ID 10941842, 12477932, 14702039, 16344560, 18094042, 18772128, 18931347, 19946888, 21900206, 21903422, 23251661, 23510452, 24816252, 26186194, 26482880, 26496610, 26638075, 8702217, 8889548,
UP_KEYWORDS Acyltransferase, Alternative splicing, Complete proteome, Glycoprotein, Lipid biosynthesis, Lipid metabolism, Membrane, Phospholipid biosynthesis, Phospholipid metabolism, Polymorphism, Proteomics identification, Reference proteome, Signal, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Lysophospholipid acyltransferase 7, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, splice variant, transmembrane region,
UP_TISSUE Colon, Kidney, Lung, Muscle,
51373 mitochondrial ribosomal protein S17(MRPS17) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000239789,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT translation, mitochondrial translation, mitochondrial translational elongation, mitochondrial translational termination,
GOTERM_CC_DIRECT mitochondrial inner membrane, mitochondrial small ribosomal subunit, ribosome,
GOTERM_MF_DIRECT structural constituent of ribosome, rRNA binding,
INTERPRO Ribosomal protein S17, Nucleic acid-binding, OB-fold,
KEGG_PATHWAY Ribosome,
OFFICIAL_GENE_SYMBOL MRPS17,
PFAM Ribosomal protein S17,
PUBMED_ID 11042152, 11181995, 11279123, 11402041, 11543634, 12477932, 12706105, 15489334, 17081983, 20186120, 20877624, 24189400, 24344204, 24457600, 25281560, 26496610, 9653160,
UP_KEYWORDS 3D-structure, Complete proteome, Mitochondrion, Proteomics identification, Reference proteome, Ribonucleoprotein, Ribosomal protein, RNA-binding, rRNA-binding, Transit peptide,
UP_SEQ_FEATURE chain:28S ribosomal protein S17, mitochondrial, modified residue, transit peptide:Mitochondrion,
UP_TISSUE Brain, Epithelium, Kidney, Umbilical cord blood, Uterus,
65993 mitochondrial ribosomal protein S34(MRPS34) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000074071,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT mitochondrial translation, mitochondrial translational elongation, mitochondrial translational termination,
GOTERM_CC_DIRECT mitochondrion, mitochondrial inner membrane, ribosome,
GOTERM_MF_DIRECT structural constituent of ribosome,
OFFICIAL_GENE_SYMBOL MRPS34,
PUBMED_ID 10751423, 11279123, 12477932, 12507520, 12706105, 15489334, 17314511, 17353931, 18029348, 19615732, 19738201, 20020773, 20186120, 20360068, 20877624, 21145461, 22658674, 22904065, 22939629, 23443559, 23473034, 24189400, 25900982, 25921289, 26186194, 26496610, 26549023, 26687479,
UP_KEYWORDS 3D-structure, Complete proteome, Mitochondrion, Polymorphism, Proteomics identification, Reference proteome, Ribonucleoprotein, Ribosomal protein,
UP_SEQ_FEATURE chain:28S ribosomal protein S34, mitochondrial, sequence variant,
UP_TISSUE Eye,
26164 mitochondrial ribosome associated GTPase 2(MTG2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000101181,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT ribosome biogenesis, regulation of respiratory system process, regulation of mitochondrial translation,
GOTERM_CC_DIRECT mitochondrial inner membrane, mitochondrial matrix, mitochondrial ribosome,
GOTERM_MF_DIRECT magnesium ion binding, GTPase activity, GTP binding,
INTERPRO Small GTP-binding protein domain, GTP binding domain, GTP1/OBG domain, GTP-binding protein Obg/CgtA, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL mtg2,
PFAM GTP1/OBG, 50S ribosome-binding GTPase,
PIR_SUPERFAMILY GTP-binding protein, obg type,
PUBMED_ID 11780052, 12477932, 14702039, 15489334, 16344560, 16712791, 17054726, 17207965, 20877624, 21608104, 21900206, 23396448, 26186194,
UP_KEYWORDS Alternative splicing, Complete proteome, GTP-binding, Magnesium, Membrane, Metal-binding, Mitochondrion, Mitochondrion inner membrane, Nucleotide-binding, Polymorphism, Proteomics identification, Reference proteome, Ribosome biogenesis, Translation regulation,
UP_SEQ_FEATURE chain:GTP-binding protein 5, nucleotide phosphate-binding region:GTP, region of interest:Localized in the mitocondria, region of interest:Not localized in the mitocondria, sequence variant,
UP_TISSUE Muscle, Testis,
126353 mitotic spindle positioning(MISP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000099812,
GOTERM_BP_DIRECT mitotic nuclear division, cell division,
GOTERM_CC_DIRECT cytoskeleton, plasma membrane, focal adhesion, cell cortex, intracellular membrane-bounded organelle,
GOTERM_MF_DIRECT actin binding,
OFFICIAL_GENE_SYMBOL MISP,
PFAM A-kinase anchor protein 2 C-terminus,
PUBMED_ID 12477932, 15489334, 16083285, 16565220, 17081983, 19170763, 20360068, 23509069, 23574715, 24475924, 26496610,
UP_KEYWORDS Actin-binding, Cell cycle, Cell division, Cell junction, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Mitosis, Phosphoprotein, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Uncharacterized protein C19orf21, modified residue, sequence variant,
UP_TISSUE Brain, Colon, Epithelium,
116255 monoacylglycerol O-acyltransferase 1(MOGAT1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000124003,
GOTERM_BP_DIRECT glycerol metabolic process, diacylglycerol biosynthetic process, triglyceride biosynthetic process,
GOTERM_CC_DIRECT endoplasmic reticulum membrane, integral component of membrane,
GOTERM_MF_DIRECT 2-acylglycerol O-acyltransferase activity, diacylglycerol O-acyltransferase activity,
INTERPRO Diacylglycerol acyltransferase,
KEGG_PATHWAY Glycerolipid metabolism,
OFFICIAL_GENE_SYMBOL MOGAT1,
PFAM Diacylglycerol acyltransferase ,
PUBMED_ID 11481335, 12077311, 14970677, 15815621, 18976975,
UP_KEYWORDS Acyltransferase, Complete proteome, Endoplasmic reticulum, Glycerol metabolism, Glycoprotein, Lipid biosynthesis, Lipid metabolism, Membrane, Polymorphism, Reference proteome, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:2-acylglycerol O-acyltransferase 1, glycosylation site:N-linked (GlcNAc...), sequence variant, transmembrane region,
UP_TISSUE Kidney,
94025 mucin 16, cell surface associated(MUC16) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000181143,
GAD_DISEASE epithelial ovarian cancer , Heart Failure,
GOTERM_BP_DIRECT cell adhesion, O-glycan processing,
GOTERM_CC_DIRECT extracellular space, Golgi lumen, plasma membrane, integral component of membrane, extrinsic component of membrane, vesicle, extracellular exosome,
GOTERM_MF_DIRECT protein binding,
INTERPRO SEA domain,
OFFICIAL_GENE_SYMBOL MUC16,
PFAM SEA domain,
PUBMED_ID 10737800, 11369781, 11786729, 11920644, 12218296, 12615972, 12734200, 12766047, 12893366, 14566828, 14676194, 14702039, 14764598, 15016783, 15483748, 15599662, 15788735, 16174214, 16194893, 16384952, 16923563, 16979301, 17067392, 17211626, 17285443, 17300679, 17301071, 17413979, 17449138, 17592322, 17604678, 17662495, 17706208, 17852076, 17852813, 17942799, 18042071, 18317225, 18342144, 18503158, 18555226, 18555706, 18609108, 18782111, 18797897, 18820245, 18834073, 18854288, 19060592, 19064572, 19075018, 19122828, 19190083, 19199708, 19270645, 19337252, 19383238, 19437230, 19440066, 19556244, 19585675, 19589273, 19937162, 20008896, 20009886, 20089172, 20090516, 20091044, 20099501, 20118015, 20201996, 20361286, 20373053, 20466443, 20488159, 20497550, 20598042, 20628030, 20680316, 20803207, 20822954, 20861755, 21046495, 21079983, 21280316, 21326240, 21331365, 21338226, 21344262, 21358606, 21367474, 21404303, 21421261, 21508102, 21515085, 21601106, 21614912, 21625941, 21775916, 21785467, 21792548, 21836488, 21852110, 21893498, 22022186, 22066010, 22159147, 22220206, 22260844, 22284961, 22286058, 22320398, 22380506, 22412224, 22528792, 22542127, 22639051, 22674301, 22727919, 22939629, 22941175, 22994745, 23053434, 23095772, 23168398, 23314748, 23322523, 23343214, 23357461, 23414674, 23426716, 23544943, 23560726, 23564055, 23568007, 23575338, 23613350, 23643288, 23669443, 23687433, 23702013, 23712355, 23765208, 23886210, 23915849, 23925696, 24012857, 24039759, 24060730, 24083699, 24204560, 24246580, 24339876, 24359057, 24403483, 24447304, 24551091, 24642341, 24651630, 24659664, 24680660, 24690311, 24716917, 24722639, 24740561, 24771264, 24779300, 24812549, 24831034, 24879526, 24913812, 24939955, 24968021, 25048447, 25118488, 25174623, 25190018, 25197000, 25205731, 25217152, 25256054, 25279712, 25326813, 25344872, 25416055, 25454345, 25458668, 25531720, 25563498, 25577553, 25667483, 25691062, 25799488, 25834501, 25875367, 25891047, 25951715, 25963833, 25965947, 25967705, 25968305, 25978292, 26045023, 26046375, 26122176, 26143638, 26163610, 26176088, 26246541, 26329844, 26496610, 26687479, 26770020,
SMART SEA,
UP_KEYWORDS Cell membrane, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Mucin-16, compositionally biased region:Ser-rich, compositionally biased region:Thr-rich, disulfide bond, domain:SEA 1, domain:SEA 10, domain:SEA 11, domain:SEA 12, domain:SEA 13, domain:SEA 14, domain:SEA 15, domain:SEA 16, domain:SEA 17, domain:SEA 18, domain:SEA 19, domain:SEA 2, domain:SEA 20, domain:SEA 21, domain:SEA 22, domain:SEA 23, domain:SEA 24, domain:SEA 25, domain:SEA 26, domain:SEA 27, domain:SEA 28, domain:SEA 29, domain:SEA 3, domain:SEA 30, domain:SEA 31, domain:SEA 32, domain:SEA 33, domain:SEA 34, domain:SEA 35, domain:SEA 36, domain:SEA 37, domain:SEA 38, domain:SEA 39, domain:SEA 4, domain:SEA 40, domain:SEA 41, domain:SEA 42, domain:SEA 43, domain:SEA 44, domain:SEA 45, domain:SEA 46, domain:SEA 47, domain:SEA 48, domain:SEA 49, domain:SEA 5, domain:SEA 50, domain:SEA 51, domain:SEA 52, domain:SEA 53, domain:SEA 54, domain:SEA 55, domain:SEA 56, domain:SEA 6, domain:SEA 7, domain:SEA 8, domain:SEA 9, glycosylation site:N-linked (GlcNAc...), modified residue, repeat:ANK 1, repeat:ANK 2, repeat:LRR 1, repeat:LRR 10, repeat:LRR 11, repeat:LRR 12, repeat:LRR 13, repeat:LRR 14, repeat:LRR 2, repeat:LRR 3, repeat:LRR 4, repeat:LRR 5, repeat:LRR 6, repeat:LRR 7, repeat:LRR 8, repeat:LRR 9, sequence conflict, sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Placenta, Trachea, Uterus,
4585 mucin 4, cell surface associated(MUC4) Related Genes Homo sapiens
COG_ONTOLOGY Signal transduction mechanisms,
ENSEMBL_GENE_ID ENSG00000145113,
GAD_DISEASE Asthma, asthma; atopy, Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections, Bronchiolitis, Viral|Respiratory Syncytial Virus Infections, invitro fertilization, respiratory syncytial virus bronchiolitis,
GOTERM_BP_DIRECT cell-matrix adhesion, O-glycan processing, maintenance of gastrointestinal epithelium,
GOTERM_CC_DIRECT proteinaceous extracellular matrix, extracellular space, Golgi lumen, integral component of plasma membrane, membrane, integral component of membrane, vesicle, extracellular exosome,
GOTERM_MF_DIRECT ErbB-2 class receptor binding, extracellular matrix constituent, lubricant activity,
INTERPRO Epidermal growth factor-like domain, von Willebrand factor, type D domain, Nidogen, extracellular domain, AMOP,
OFFICIAL_GENE_SYMBOL MUC4,
PFAM von Willebrand factor type D domain, Nidogen-like,
PUBMED_ID 10024507, 10880978, 10920259, 11062147, 11598901, 11687512, 11727258, 11925450, 12084055, 12102554, 12153560, 12386815, 12434309, 12477932, 12495942, 12732353, 12748185, 1351710, 14690056, 14744777, 15184872, 15461591, 15672420, 15897748, 16007204, 16049287, 16266293, 16302265, 16329125, 16344560, 16475027, 16502470, 16624867, 16690615, 1673336, 16779668, 16799633, 16807280, 16814944, 16857800, 16880776, 16891313, 16914178, 17037983, 17058067, 17292332, 17406026, 17553805, 17592322, 17621592, 17703412, 17891050, 18008338, 18029348, 18381409, 18397823, 18475301, 18492726, 18573283, 18665193, 18781152, 18834073, 19010895, 19082442, 19127263, 19188823, 19190083, 19199708, 19236510, 19258923, 19288496, 19738614, 19757157, 20065027, 20423995, 20432461, 20503287, 20591909, 20697346, 20922503, 21072847, 21349170, 21415703, 21615302, 21618516, 21647207, 21728842, 21889495, 21983127, 22105367, 22393391, 22580602, 22614008, 22644656, 22757586, 22791819, 22982887, 23053434, 23152882, 23305535, 23307400, 23370366, 23408941, 23446997, 23464473, 23533145, 23544943, 23668430, 23685711, 23860190, 23921963, 24037917, 24047396, 24204560, 24204934, 24240113, 24290871, 24374017, 24582898, 24608432, 24671186, 24676527, 24698420, 24714692, 24747969, 24939955, 24992172, 25327561, 25367394, 25522282, 25531332, 25571874, 25686822, 25923310, 26035354, 26393880, 26477488, 7745080, 8245407, 9620877, 9858486,
SMART EGF, VWD, NIDO, AMOP,
UP_KEYWORDS Alternative splicing, Cell adhesion, Cell membrane, Complete proteome, Disulfide bond, EGF-like domain, Glycoprotein, Membrane, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:mucin, chain:Mucin-4, chain:Mucin-4 alpha chain, chain:Mucin-4 beta chain, compositionally biased region:Ser-rich, disulfide bond, domain:AMOP, domain:EGF-like 1, domain:EGF-like 2, domain:NIDO, domain:VWFD, glycosylation site:N-linked (GlcNAc...), glycosylation site:O-linked (GalNAc...), region of interest:Repeat, sequence conflict, sequence variant, signal peptide, site:Cleavage, splice variant, transmembrane region,
UP_TISSUE Colon mucosa, Lung, Milk, Pancreatic adenocarcinoma, Pancreatic tumor, Testis,
727897 mucin 5B, oligomeric mucus/gel-forming(MUC5B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000117983,
GAD_DISEASE Albumins, Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections, Bladder Cancer, Bronchiolitis, Viral|Respiratory Syncytial Virus Infections, Otitis Media|Otitis Media with Effusion|Recurrence, respiratory syncytial virus bronchiolitis,
GOTERM_BP_DIRECT O-glycan processing, defense response to bacterium, regulation of macrophage activation,
GOTERM_CC_DIRECT extracellular space, Golgi lumen, intracellular membrane-bounded organelle, extracellular exosome,
GOTERM_MF_DIRECT extracellular matrix structural constituent, protein binding,
INTERPRO von Willebrand factor, type C, von Willebrand factor, type D domain, Trypsin Inhibitor-like, cysteine rich domain, Cystine knot, C-terminal, Uncharacterised domain, cysteine-rich, WxxW domain,
KEGG_PATHWAY Salivary secretion,
OFFICIAL_GENE_SYMBOL MUC5B,
OMIM_DISEASE Pulmonary fibrosis, idiopathic, susceptibility to,
PFAM von Willebrand factor type C domain, von Willebrand factor type D domain, Trypsin Inhibitor like cysteine rich domain, C8 domain, Mucin-2 protein WxxW repeating region,
PUBMED_ID 10217161, 11062147, 11713095, 11825880, 11853536, 11996097, 12459324, 12756239, 12768436, 14690056, 14758553, 14988081, 15563276, 15709052, 16188033, 16341674, 16502470, 16540890, 16740002, 17063754, 17125499, 1718282, 17471237, 17473699, 17606809, 17621824, 17671696, 17703412, 17850213, 17998215, 18272164, 18282555, 18339669, 18688042, 18757307, 18776153, 18817906, 18834073, 18976975, 19077699, 19118346, 19191526, 19258923, 19452580, 19556293, 19556605, 19596978, 19718741, 19783639, 20066894, 20081098, 20156260, 20197185, 20301408, 20422702, 20497020, 20503287, 20531251, 20572857, 20873538, 20946627, 21097527, 21194732, 21455588, 21506741, 21506748, 21596555, 21618303, 21619869, 21832046, 21981454, 22269464, 22391959, 22576636, 22591690, 22802285, 23207284, 23249391, 23314748, 23321605, 23406586, 23527003, 23533145, 23692170, 23695349, 23783374, 23807779, 23929584, 23940607, 24332705, 24429156, 24434656, 24441930, 24547893, 24717875, 24792379, 24840470, 24885580, 24924948, 25121989, 25317858, 25333937, 25420179, 25581455, 25638393, 25733373, 25926289, 26057585, 26186194, 26224019, 26331942, 26512610, 26514822, 26539479, 26595739, 26871672, 26871673, 7513696, 7916618, 8554565, 8889548, 9013550, 9109822, 9147051, 9164870, 9201995, 9790959, 9804771, 9815215,
SMART CT, VWC, VWC_out, VWD, SM00832,
UP_KEYWORDS Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Mucin-5B, disulfide bond, domain:CTCK, domain:TIL, domain:VWFC 1, domain:VWFC 2, domain:VWFC 3, domain:VWFD 1, domain:VWFD 2, domain:VWFD 3, domain:VWFD 4, glycosylation site:C-linked (Man), glycosylation site:N-linked (GlcNAc...), mutagenesis site, region of interest:11 X approximate tandem repeats, Ser/Thr- rich, region of interest:17 X approximate tandem repeats, Ser/Thr- rich, region of interest:23 X approximate tandem repeats, Ser/Thr- rich, region of interest:7 X Cys-rich subdomain repeats, repeat:Cys-rich subdomain 1, repeat:Cys-rich subdomain 2, repeat:Cys-rich subdomain 3, repeat:Cys-rich subdomain 4, repeat:Cys-rich subdomain 5, repeat:Cys-rich subdomain 6, repeat:Cys-rich subdomain 7, sequence conflict, sequence variant, signal peptide,
UP_TISSUE Gall bladder, Placenta, Saliva, Salivary gland, Sublingual gland, Tracheobronchial mucosa,
26509 myoferlin(MYOF) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000138119,
GAD_DISEASE Alzheimer's disease , Platelet Count, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT plasma membrane repair, muscle contraction, blood circulation, regulation of vascular endothelial growth factor receptor signaling pathway, cellular response to heat,
GOTERM_CC_DIRECT nuclear envelope, plasma membrane, caveola, integral component of membrane, cytoplasmic vesicle membrane, cytoplasmic vesicle, nuclear membrane, intracellular membrane-bounded organelle, extracellular exosome,
GOTERM_MF_DIRECT protein binding, phospholipid binding,
INTERPRO C2 calcium-dependent membrane targeting, Peroxin/Ferlin domain, Ferlin A-domain, Ferlin B-domain, FerIin domain,
OFFICIAL_GENE_SYMBOL MYOF,
PFAM C2 domain, FerB (NUC096) domain, FerI (NUC094) domain, FerA (NUC095) domain,
PUBMED_ID 10574462, 10607832, 10995573, 11790298, 11959863, 12168954, 12477932, 14702039, 15164054, 15302935, 15489334, 16009940, 16385451, 17081983, 17185750, 17702744, 18029348, 18495154, 18502764, 18854154, 19056867, 19228595, 19494235, 19913121, 20379614, 20628086, 21319273, 21362503, 21674799, 22135466, 22761893, 22808170, 22939629, 23146885, 23376485, 23499551, 23533145, 23859474, 23864327, 24332808, 24687993, 25631868, 26311411, 26496610, 26561776,
SMART C2, DysFN, DysFC, SM01200, SM01201, SM01202,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Cell membrane, Complete proteome, Cytoplasmic vesicle, Membrane, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Signal-anchor, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Myoferlin, compositionally biased region:Poly-Arg, domain:C2 1, domain:C2 2, domain:C2 3, domain:C2 4, domain:C2 5, helix, modified residue, mutagenesis site, region of interest:Necessary for interaction with EHD2, sequence conflict, sequence variant, splice variant, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region, turn,
UP_TISSUE Brain, Epithelium, Fetal brain, Heart, Lung, Placenta, Thyroid,
4641 myosin IC(MYO1C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000197879,
GAD_DISEASE Hearing Loss, Sensorineural,
GOTERM_BP_DIRECT protein targeting, protein targeting to membrane, positive regulation of cell migration, positive regulation of actin filament polymerization, positive regulation of cell migration by vascular endothelial growth factor signaling pathway, Fc-gamma receptor signaling pathway involved in phagocytosis, positive regulation of gene expression, epigenetic, mRNA transport, positive regulation of protein targeting to membrane, positive regulation of cellular response to insulin stimulus, positive regulation of vascular endothelial growth factor signaling pathway, regulation of bicellular tight junction assembly,
GOTERM_CC_DIRECT stress fiber, nuclear pore, nucleoplasm, nucleolus, cytoplasm, cytosol, plasma membrane, microvillus, brush border, basal plasma membrane, membrane, cytoplasmic, membrane-bounded vesicle, lateral plasma membrane, myosin complex, unconventional myosin complex, cytoplasmic vesicle, filamentous actin, ruffle membrane, membrane raft, myosin I complex, stereocilium membrane, extracellular exosome,
GOTERM_MF_DIRECT microfilament motor activity, motor activity, actin binding, receptor binding, protein binding, calmodulin binding, ATP binding, protein C-terminus binding, Ral GTPase binding, actin-dependent ATPase activity,
INTERPRO IQ motif, EF-hand binding site, Myosin head, motor domain, Myosin tail 2, P-loop containing nucleoside triphosphate hydrolase,
OFFICIAL_GENE_SYMBOL MYO1C,
PFAM Myosin head (motor domain), IQ calmodulin-binding motif, Myosin tail,
PUBMED_ID 11030652, 12477932, 15146197, 15302935, 15342556, 15558034, 16133118, 16300736, 16344560, 16514417, 16603771, 16877530, 16957816, 16960872, 17081983, 17353931, 17620012, 17620599, 18599791, 19027848, 19056867, 19199708, 19380743, 19615732, 19729515, 19946888, 20308691, 20458337, 20473970, 20876399, 21182205, 21362503, 21402783, 21565611, 22266860, 22328521, 22586326, 22745667, 22939629, 22952844, 23262137, 23376485, 23398456, 23438938, 23533145, 23555303, 24056301, 24332808, 24407287, 24457600, 24523293, 24636949, 24698832, 24797263, 24901984, 25144556, 25324306, 25551774, 25660542, 25921289, 25963833, 26471122, 26496610, 26561776, 8719884, 8884266, 9119401, 9367879, 9858156,
SMART IQ, MYSc,
UP_KEYWORDS 3D-structure, Acetylation, Actin-binding, Alternative splicing, ATP-binding, Calmodulin-binding, Cell membrane, Cell projection, Complete proteome, Cytoplasm, Cytoplasmic vesicle, Direct protein sequencing, Membrane, Methylation, Motor protein, mRNA transport, Myosin, Nuclear pore complex, Nucleotide-binding, Nucleus, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Repeat, Translocation, Transport,
UP_SEQ_FEATURE chain:Myosin-Ic, domain:IQ 1, domain:IQ 2, domain:Myosin head-like, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Cervix carcinoma, Epithelium, Eye, Kidney, Liver, Teratocarcinoma, Trachea,
259197 natural cytotoxicity triggering receptor 3(NCR3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204475,
GAD_DISEASE Abortion, Spontaneous, Behcet Syndrome, Body Weight, Diabetes Mellitus, Type 1|, Lupus Erythematosus, Systemic, Malaria, malaria, plasmodium falciparum, Obesity, Respiratory Function Tests, Retinal Detachment|Vitreoretinopathy, Proliferative, Type 2 Diabetes| edema | rosiglitazone, weight ,
GOTERM_BP_DIRECT positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target, inflammatory response, immune response, homophilic cell adhesion via plasma membrane adhesion molecules, heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules, cell recognition, susceptibility to natural killer cell mediated cytotoxicity, positive regulation of natural killer cell mediated cytotoxicity, regulation of immune response, susceptibility to T cell mediated cytotoxicity,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, cell-cell adherens junction,
GOTERM_MF_DIRECT receptor activity, receptor binding, protein homodimerization activity, cell adhesion molecule binding,
INTERPRO Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
KEGG_PATHWAY Natural killer cell mediated cytotoxicity,
OFFICIAL_GENE_SYMBOL NCR3,
OMIM_DISEASE Malaria, mild, susceptibility to,
PFAM Immunoglobulin V-set domain,
PUBMED_ID 10202016, 10562324, 10941844, 11782277, 11895890, 12477932, 12486241, 12731048, 14574404, 14635045, 14656967, 15489334, 15657183, 15728472, 15784725, 15972650, 16272287, 16304049, 16362817, 16690951, 17207965, 17208487, 17436233, 18023431, 18055229, 18092004, 18157817, 18275895, 18713971, 18802053, 18852879, 19079260, 19143814, 19528259, 19551844, 19580844, 19851445, 19913121, 20587610, 20628086, 20663564, 20712903, 20812318, 21422170, 21444796, 21552268, 21946350, 22044312, 22221078, 22360401, 22807449, 22851709, 23028341, 23059620, 23066150, 23284291, 23345327, 23360454, 23456936, 23490421, 23687088, 23884468, 24133212, 24139398, 24162774, 24275655, 24882570, 25001651, 25315772, 25824372, 25877893, 25991472, 26094914, 26241657, 26582946, 7590964, 8824804,
SMART IG,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell membrane, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Membrane, Polymorphism, Receptor, Reference proteome, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Natural cytotoxicity triggering receptor 3, disulfide bond, domain:Ig-like, glycosylation site:N-linked (GlcNAc...), sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Blood, Lymphoid, Peripheral blood, Spleen,
10763 nestin(NES) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000132688,
GAD_DISEASE Coronary Disease,
GOTERM_BP_DIRECT G2/M transition of mitotic cell cycle, central nervous system development, brain development, positive regulation of intermediate filament depolymerization, embryonic camera-type eye development, negative regulation of protein binding, negative regulation of catalytic activity, negative regulation of neuron apoptotic process, cell projection morphogenesis, stem cell proliferation, positive regulation of neural precursor cell proliferation,
GOTERM_CC_DIRECT cytoplasm, intermediate filament, extracellular matrix, intermediate filament cytoskeleton,
GOTERM_MF_DIRECT structural molecule activity, intermediate filament binding,
INTERPRO Intermediate filament protein, Intermediate filament protein, conserved site,
OFFICIAL_GENE_SYMBOL NES,
PFAM Intermediate filament protein,
PUBMED_ID 10595912, 10686078, 10912785, 10915564, 10931522, 11161590, 11278541, 11947939, 12051722, 12101039, 12172785, 12187925, 12477932, 12640742, 12662433, 12663072, 12695551, 12724646, 12751206, 12754281, 12786777, 12816052, 12832492, 12836073, 12928287, 12966327, 12966727, 12971951, 14514635, 14613807, 14625035, 14648588, 14743441, 14757413, 14765974, 1478958, 14965830, 15048922, 15088413, 15117961, 15127288, 15176089, 15345747, 15502861, 15526158, 15684833, 16136494, 16159877, 16186627, 16275024, 16487364, 16538520, 16616189, 16713999, 16736556, 16826367, 16874866, 17036052, 17081983, 17210924, 17255215, 17273760, 17300669, 17537965, 17652163, 17784648, 17784840, 17909025, 17984177, 18029348, 18265627, 18546018, 18618166, 18724036, 18724228, 18799194, 18923447, 18925963, 18998057, 19012049, 19170896, 19268442, 19294612, 19384922, 19417621, 19445653, 19473053, 19554024, 19562035, 19578047, 19704967, 19845757, 19864043, 19956860, 20017104, 20044038, 20132963, 20337823, 20426902, 20518888, 20520523, 20536663, 20649878, 20669222, 20700038, 20943257, 21151388, 21185309, 21251041, 21276080, 21323603, 21340483, 21440298, 21490921, 21503585, 21524985, 21527990, 21672338, 21915031, 21985235, 22113177, 22135720, 22156015, 22178090, 22187705, 22207173, 22246533, 22296500, 22297445, 22344865, 22350668, 22395498, 22568867, 22572237, 22580387, 22586326, 22649953, 22658674, 22718289, 22886682, 22899289, 22985576, 22993065, 22999866, 23072594, 23131160, 23291835, 23417116, 23552743, 23706418, 23757003, 23776077, 23962157, 23979707, 24008823, 24030749, 24147430, 24254558, 24283983, 24443256, 24481417, 24498263, 24503548, 24519516, 24610946, 24657437, 24711643, 24755685, 24785714, 25056574, 25083869, 25118937, 25120750, 25164879, 25178519, 25322343, 25339000, 25365206, 25371063, 25376607, 25400792, 25428542, 25500739, 25527454, 25599268, 25605182, 25629269, 25839093, 25843934, 25854362, 25921289, 25940879, 25963833, 25967234, 26186194, 26242334, 26261513, 26335012, 26414809, 26421614, 26496610, 26600525, 4078630, 9104587, 9917366,
SMART SM01391,
UP_KEYWORDS Acetylation, Coiled coil, Complete proteome, Developmental protein, Intermediate filament, Isopeptide bond, Neurogenesis, Phosphoprotein, Polymorphism, Reference proteome, Ubl conjugation,
UP_SEQ_FEATURE chain:Nestin, modified residue, region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2A, region of interest:Coil 2B, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Linker 2, region of interest:Rod, region of interest:Tail, sequence conflict, sequence variant,
UP_TISSUE Brain, Epithelium, Eye, Liver, Neuroblastoma, Placenta,
3084 neuregulin 1(NRG1) Related Genes Homo sapiens
BIOCARTA Agrin in Postsynaptic Differentiation, Neuroregulin receptor degredation protein-1 Controls ErbB3 receptor recycling,
ENSEMBL_GENE_ID ENSG00000157168,
GAD_DISEASE Alzheimer's Disease, Alzheimer's disease; psychoses, Arteries, Asthma|, atherosclerosis, autism, Bipolar Disorder, cardiovascular risk, cognitive function schizotypy, Depression, Diabetes Mellitus, Type 2, Electrocardiography, Hematocrit, Hip, hip geometry, hippocampal atrophy, Hirschsprung disease, Hirschsprung's disease, Infant, Newborn, Diseases, Insulin, longevity, Marijuana Abuse|Psychoses, Substance-Induced, methamphetamine psychosis, normal variation, null, Osteoporosis, prepulse inhibition, psychoses schizophrenia, psychosis, psychosis, manic schizophrenia, Schizophrenia, schizophrenia | autism, schizophrenia | bipolar disorder, schizophrenia | personality, Schizophrenia|bipolar disorder, schizotypal personality, several psychiatric disorders, Stroke, Thyroid Neoplasms, Tobacco Use Disorder, Triglycerides, Type 2 Diabetes| edema | rosiglitazone, Waist Circumference,
GOTERM_BP_DIRECT MAPK cascade, activation of MAPK activity, cell morphogenesis, startle response, cardiac conduction system development, ventricular trabecula myocardium morphogenesis, cell communication, transmembrane receptor protein tyrosine kinase signaling pathway, activation of transmembrane receptor protein tyrosine kinase activity, nervous system development, synapse assembly, peripheral nervous system development, locomotory behavior, cell proliferation, positive regulation of cell proliferation, axon ensheathment, embryo development, negative regulation of cardiac muscle cell apoptotic process, neural crest cell development, regulation of phosphatidylinositol 3-kinase signaling, positive regulation of phosphatidylinositol 3-kinase signaling, peptidyl-tyrosine phosphorylation, glial cell fate commitment, chemorepulsion involved in interneuron migration from the subpallium to the cortex, positive regulation of cell growth, mammary gland development, positive regulation of myelination, activation of protein kinase B activity, intracellular signal transduction, ERBB signaling pathway, ERBB2 signaling pathway, wound healing, negative regulation of protein catabolic process, regulation of protein homodimerization activity, regulation of protein heterodimerization activity, positive regulation of GTPase activity, cellular protein complex disassembly, neurotransmitter receptor metabolic process, positive regulation of axon extension, positive regulation of cell adhesion, negative regulation of transcription, DNA-templated, positive regulation of transcription from RNA polymerase II promoter, positive regulation of Ras protein signal transduction, phosphatidylinositol phosphorylation, phosphatidylinositol-mediated signaling, neuron fate commitment, oligodendrocyte differentiation, positive regulation of peptidyl-tyrosine phosphorylation, negative regulation of secretion, positive regulation of striated muscle cell differentiation, positive regulation of protein kinase B signaling, cardiac muscle cell differentiation, ventricular cardiac muscle cell differentiation, positive regulation of cardiac muscle cell proliferation, cardiac muscle cell myoblast differentiation, endocardial cell differentiation, positive regulation of dendritic spine development, positive regulation of calcineurin-NFAT signaling cascade, positive regulation of protein targeting to mitochondrion, positive regulation of protein localization to cell surface, regulation of cell motility, positive regulation of cardiac muscle cell differentiation, negative regulation of neuron migration, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand,
GOTERM_CC_DIRECT extracellular region, extracellular space, nucleus, cytoplasm, integral component of plasma membrane, external side of plasma membrane, membrane, integral component of membrane, apical plasma membrane, dendrite, axolemma, neuromuscular junction, cell body,
GOTERM_MF_DIRECT transcription cofactor activity, protein tyrosine kinase activity, Ras guanyl-nucleotide exchange factor activity, receptor binding, cytokine activity, ErbB-2 class receptor binding, integrin binding, growth factor activity, protein tyrosine kinase activator activity, transmembrane receptor protein tyrosine kinase activator activity, receptor tyrosine kinase binding, ErbB-3 class receptor binding, chemorepellent activity, phosphatidylinositol-4,5-bisphosphate 3-kinase activity,
INTERPRO Epidermal growth factor-like domain, Neuregulin 1-related, C-terminal, Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, EGF-like, conserved site, Immunoglobulin I-set, Immunoglobulin-like fold, Neuregulin,
KEGG_PATHWAY ErbB signaling pathway,
OFFICIAL_GENE_SYMBOL NRG1,
OMIM_DISEASE Schizophrenia, susceptibility to,
PFAM EGF-like domain, Neuregulin family, Immunoglobulin I-set domain,
PUBMED_ID 10372964, 10523851, 10537356, 10559227, 10585499, 10597312, 11042203, 11116142, 11389077, 11555649, 11896060, 12082616, 12145742, 12204892, 12471041, 12477932, 12478479, 12509456, 12528817, 12556556, 12600989, 12646923, 12768307, 12800145, 12808428, 12874607, 1348215, 1350381, 14569272, 14632199, 14647391, 14699424, 14702039, 14729827, 14966480, 15007393, 15073182, 15155732, 15159416, 15162166, 15197397, 15219675, 15248869, 15276238, 15303101, 15326116, 15466169, 15489334, 15494726, 15498868, 15527969, 15538186, 15545978, 15584912, 15609326, 15645137, 15703820, 15897877, 15939841, 16082692, 16155362, 16158055, 16189508, 16219117, 16219118, 16249994, 16287046, 16326006, 16344560, 16412517, 16428439, 16442083, 16446404, 16470843, 16483744, 16520822, 16526041, 16618933, 16638076, 16687441, 16690615, 16730337, 16767099, 16825199, 16867224, 16868568, 16891421, 16940976, 17033632, 17072305, 17214955, 17275115, 17300918, 17336907, 17336946, 17366345, 17405926, 17408693, 17432114, 17447867, 17499242, 17503451, 17519028, 17562386, 17565985, 17598910, 17602072, 17631867, 17652086, 17884806, 17901998, 17903296, 17925794, 17941827, 17962208, 18032396, 18159252, 18180429, 18193072, 18198266, 18234478, 18255317, 18282690, 18286587, 18291420, 18395550, 18455303, 18455369, 18466879, 18466881, 18470533, 18494263, 18494554, 18497096, 18516516, 18543275, 18571900, 18583979, 18584117, 18585932, 18606232, 18668031, 18704261, 18714568, 18728681, 18798975, 18799465, 18806920, 19054571, 19058791, 19086053, 19127563, 19148499, 19150438, 19156152, 19184335, 19196962, 19199244, 19229203, 19269083, 19306381, 19328558, 19339916, 19350564, 19367581, 19367584, 19394386, 19439994, 19448847, 19449332, 19497323, 19521112, 19545856, 19556605, 19569180, 19573260, 19575259, 19594860, 19597049, 19626024, 19644050, 19652122, 19659570, 19733651, 19736351, 19782967, 19797898, 19801490, 19802002, 19913121, 19913623, 19937977, 19965935, 19967439, 20036336, 20061032, 20102668, 20182055, 20215529, 20218976, 20227043, 20371257, 20374152, 20379614, 20427670, 20435087, 20467437, 20472376, 20497232, 20520724, 20526724, 20580130, 20582876, 20625696, 20628086, 20638435, 20671236, 20682778, 20736300, 20800603, 20921115, 20926259, 20927045, 20978455, 21035784, 21041608, 21057508, 21127983, 21234898, 21239627, 21246584, 21247898, 21283760, 21368034, 21371516, 21437657, 21467033, 21512575, 21546767, 21555713, 21576249, 21653853, 21706185, 21716252, 21745728, 21792199, 21840482, 21858616, 21865659, 21965611, 22019858, 22027878, 22042562, 22052506, 22158511, 22183611, 22200588, 22209534, 22216327, 22226049, 22226548, 22249266, 22249457, 22267200, 22350758, 22377709, 22378022, 22378872, 22414959, 22424243, 22425775, 22467496, 22494484, 22504067, 22520967, 22563075, 22574178, 22590542, 22613991, 22739235, 22790889, 22832904, 22886427, 22891299, 22944276, 22968213, 22974608, 22999558, 23032943, 23035098, 23104879, 23148218, 23213231, 23247143, 23253390, 23301017, 23308187, 23328545, 23360725, 23399902, 23400839, 23408906, 23468880, 23480537, 23489597, 23524320, 23572145, 23590603, 23625463, 23632455, 23739962, 23870195, 23934736, 23937725, 24044505, 24083437, 24097984, 24112719, 24123921, 24152577, 24229388, 24232507, 24234399, 24270810, 24283951, 24283952, 24283953, 24309211, 24324551, 24380930, 24447735, 24469108, 24658140, 24682830, 24767010, 24865593, 24872569, 24935406, 25018110, 25042954, 25106628, 25142529, 25244971, 25310821, 25325441, 25367360, 25381017, 25402006, 25416285, 25436638, 25475805, 25492964, 25492965, 25501131, 25531467, 25542901, 25545368, 25666438, 25754081, 25802071, 25858800, 25944317, 25952648, 25967537, 25988855, 25992564, 26116360, 26134228, 26160848, 26186194, 26195293, 26202361, 26206558, 26269601, 26269920, 26318724, 26327598, 26465092, 26490994, 26534905, 26535009, 26588216, 26648299, 26780728, 26886748, 26909665, 26960157, 26993800, 27027665, 7509448, 7514177, 7556068, 7592681, 7689552, 7721889, 7730382, 7782315, 7876250, 7903175, 8062828, 8095334, 8096067, 8125298, 8325659, 8702572, 9168114, 9168115, 9333014, 9342050, 9553078, 9565587, 9685409,
SMART EGF, IGc2, IG,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell membrane, Chromosomal rearrangement, Complete proteome, Direct protein sequencing, Disulfide bond, EGF-like domain, Glycoprotein, Growth factor, Immunoglobulin domain, Membrane, Nucleus, Polymorphism, Proteomics identification, Reference proteome, Secreted, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Neuregulin-1, chain:Pro-neuregulin-1, membrane-bound isoform, compositionally biased region:Ser/Thr-rich, disulfide bond, domain:EGF-like, domain:Ig-like C2-type, glycosylation site:N-linked (GlcNAc...), helix, sequence conflict, sequence variant, site:Breakpoint for translocation to form gamma-heregulin, splice variant, strand, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain, Brain hippocampus, Cerebellum, Kidney adenocarcinoma, Mammary cancer, Ovary, Pituitary,
4741 neurofilament, medium polypeptide(NEFM) Related Genes Homo sapiens
COG_ONTOLOGY Cell envelope biogenesis, outer membrane,
ENSEMBL_GENE_ID ENSG00000104722,
GAD_DISEASE Alcoholism, Parkinson's Disease, psychoses schizophrenia,
GOTERM_BP_DIRECT neurofilament bundle assembly, axon development,
GOTERM_CC_DIRECT neurofilament, axon, neurofibrillary tangle,
GOTERM_MF_DIRECT structural molecule activity, structural constituent of cytoskeleton, protein binding, microtubule binding,
INTERPRO Intermediate filament protein, Keratin, type I, Intermediate filament head, DNA-binding domain, Intermediate filament protein, conserved site,
KEGG_PATHWAY Amyotrophic lateral sclerosis (ALS),
OFFICIAL_GENE_SYMBOL NEFM,
PFAM Intermediate filament protein, Intermediate filament head (DNA binding) region,
PUBMED_ID 10762698, 11563628, 12133495, 12477932, 12963086, 1348579, 14583397, 14662745, 15032605, 15290901, 15342556, 1537832, 15822905, 16006557, 16084104, 16734940, 17043677, 17498690, 18029348, 19034380, 20195357, 20201926, 20213320, 20381070, 20471030, 20562859, 20624930, 21565611, 21816823, 21828286, 21956116, 22020285, 22586326, 24244333, 24489003, 2450354, 24636402, 24984263, 2557834, 25609649, 25963833, 26186194, 26460568, 26496610, 3608989, 7790359, 7829101, 8344946, 8620924, 8702840,
SMART SM01391,
UP_KEYWORDS Acetylation, Alternative splicing, Coiled coil, Complete proteome, Direct protein sequencing, Glycoprotein, Intermediate filament, Methylation, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Neurofilament medium polypeptide, glycosylation site:O-linked (GlcNAc), modified residue, region of interest:6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK], region of interest:Coil 1A, region of interest:Coil 1B, region of interest:Coil 2A, region of interest:Coil 2B, region of interest:Head, region of interest:Linker 1, region of interest:Linker 12, region of interest:Linker 2, region of interest:Rod, region of interest:Tail, repeat:1, repeat:2, repeat:3, repeat:4, repeat:5, repeat:6, sequence conflict, sequence variant,
UP_TISSUE Brain, Brain cortex, Fetal brain cortex,
5540 neuropeptide Y receptor Y4(NPY4R) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204174,
GAD_DISEASE Body Mass Index, Tobacco Use Disorder,
GOTERM_BP_DIRECT cell surface receptor signaling pathway, G-protein coupled receptor signaling pathway, neuropeptide signaling pathway, digestion, feeding behavior, blood circulation,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane,
GOTERM_MF_DIRECT pancreatic polypeptide receptor activity, G-protein coupled receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Neuropeptide Y receptor family, Neuropeptide Y4 receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Neuroactive ligand-receptor interaction,
OFFICIAL_GENE_SYMBOL NPY4R,
PFAM 7 transmembrane receptor (rhodopsin family),
PUBMED_ID 11739470, 11825645, 11906964, 11975932, 12007534, 12477932, 15489334, 18577758, 18826257, 19229253, 19481128, 20379614, 21745157, 22947943, 24375409, 25324306, 25445712, 2834384, 7493937, 7592911, 8643460, 9417917, 9441761,
UP_KEYWORDS 3D-structure, Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Lipoprotein, Membrane, Palmitate, Polymorphism, Receptor, Reference proteome, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Neuropeptide Y receptor type 4, disulfide bond, glycosylation site:N-linked (GlcNAc...), lipid moiety-binding region:S-palmitoyl cysteine, sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE PCR rescued clones, Placenta,
29781 non-SMC condensin II complex subunit H2(NCAPH2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000025770,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT chromosome condensation, chromosome organization,
GOTERM_CC_DIRECT nucleoplasm, chromosome, membrane,
GOTERM_MF_DIRECT protein binding,
INTERPRO Non-SMC condensin II complex, subunit H2-like,
OFFICIAL_GENE_SYMBOL NCAPH2,
PFAM Protein of unknown function (DUF1032),
PUBMED_ID 10493829, 12477932, 12667442, 14532007, 15461802, 16751776, 17268547, 19913121, 19946888, 20139978, 20442714, 20628086, 21516116, 21988832, 23222517, 23956138, 25416956, 25921289, 26017022, 26166704, 26186194, 26344197, 26496610, 26742120,
UP_KEYWORDS Alternative splicing, Chromosome, Complete proteome, DNA condensation, Nucleus, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Condensin-2 complex subunit H2, modified residue, sequence conflict, splice variant,
UP_TISSUE Brain, Cervix, Epithelium, Lung, Muscle, Placenta, Skin,
2516 nuclear receptor subfamily 5 group A member 1(NR5A1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000136931,
GAD_DISEASE Adrenal Insufficiency|Hypospadias, Cryptorchidism, diabetes, type 2 insulin, infertility, male, micropenis,
GOTERM_BP_DIRECT luteinization, transcription, DNA-templated, regulation of transcription, DNA-templated, transcription from RNA polymerase II promoter, transcription initiation from RNA polymerase II promoter, cell-cell signaling, primary sex determination, male gonad development, hormone-mediated signaling pathway, tissue development, multicellular organism aging, cell differentiation, adrenal gland development, intracellular receptor signaling pathway, hormone metabolic process, steroid hormone mediated signaling pathway, positive regulation of transcription from RNA polymerase II promoter, regulation of steroid biosynthetic process, maintenance of protein location in nucleus, positive regulation of male gonad development, negative regulation of female gonad development,
GOTERM_CC_DIRECT nucleus, nucleoplasm, RNA polymerase II transcription factor complex,
GOTERM_MF_DIRECT transcription regulatory region sequence-specific DNA binding, RNA polymerase II distal enhancer sequence-specific DNA binding, DNA binding, chromatin binding, transcription factor activity, sequence-specific DNA binding, transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding, steroid hormone receptor activity, transcription coactivator activity, RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding, protein binding, phospholipid binding, zinc ion binding, enzyme binding, sequence-specific DNA binding,
INTERPRO Nuclear hormone receptor, ligand-binding, core, Zinc finger, nuclear hormone receptor-type, Steroid hormone receptor, Zinc finger, NHR/GATA-type, Steroidogenic factor 1,
OFFICIAL_GENE_SYMBOL NR5A1,
OMIM_DISEASE Premature ovarian failure 7, 46XY sex reversal 3, Spermatogenic failure 8, Adrenocortical insufficiency,
PFAM Ligand-binding domain of nuclear hormone receptor, Zinc finger, C4 type (two domains),
PIR_SUPERFAMILY steroidogenic factor-like nuclear receptor,
PUBMED_ID 10230405, 10369247, 10369682, 10446911, 10478848, 10567391, 10628748, 10684809, 10848616, 10919277, 11038323, 11071856, 11459805, 11479297, 11518799, 11574675, 11592817, 11713202, 11738790, 11886523, 11897684, 11932209, 11932325, 12083805, 12083815, 12101186, 12161505, 12477932, 12554773, 12651892, 12727988, 12730328, 12732652, 12782406, 12843196, 12907682, 12917325, 12920234, 14555713, 14580722, 14623279, 14701856, 14702039, 14963109, 15044589, 15192080, 15261303, 15379426, 15388788, 15471945, 15472171, 15489334, 15546904, 15579738, 15579739, 15666825, 15707893, 15831526, 15879363, 15897460, 16127213, 16469813, 16488887, 16500365, 16564598, 16595694, 16684822, 16709599, 16816804, 16834661, 16887917, 17190602, 17226773, 17331471, 17474147, 17488792, 17519303, 17520059, 17664281, 17694559, 17761949, 17786540, 17901130, 17940071, 17975261, 18165439, 18182853, 18579725, 18653709, 18665078, 18824868, 18974272, 18984668, 19001523, 19022561, 19237537, 19246354, 19322201, 19439508, 19490893, 19549922, 19692572, 19849982, 19875956, 19878766, 19930843, 20026603, 20045459, 20080844, 20133449, 20207836, 20211142, 20301714, 20302644, 20394914, 20453312, 20498720, 20601698, 20660055, 20861607, 20875752, 20887963, 21078366, 21081692, 21087664, 21111025, 21129436, 21163476, 21163858, 21164257, 21220346, 21239516, 21242195, 21324456, 21412441, 21467194, 21654157, 21693691, 21775434, 21926385, 22024498, 22028768, 22100173, 22218443, 22427816, 22474171, 22549935, 22553814, 22715467, 22832114, 22907560, 22927646, 22951804, 22987798, 23044873, 23095176, 23096908, 23153500, 23154282, 23158211, 23165333, 23218904, 23291911, 23299922, 23313103, 23450049, 23471216, 23537609, 23543655, 23610160, 23637637, 23650189, 23729601, 23899549, 23918653, 23969951, 24012099, 24067197, 24076780, 24321386, 24405868, 24434652, 24531914, 24591553, 24635384, 24750329, 24828505, 24905461, 25099250, 25122490, 25283508, 25288771, 25416956, 25502990, 25604140, 25896302, 25985323, 25989977, 26139438, 26200099, 7479914, 7629233, 7789992, 8205615, 8806624, 8964846, 9002548, 9183568, 9238716, 9328345, 9590178, 9774680,
SMART ZnF_C4, HOLI,
UP_KEYWORDS 3D-structure, Acetylation, Activator, Complete proteome, Disease mutation, DNA-binding, Isopeptide bond, Lipid-binding, Metal-binding, Nucleus, Phosphoprotein, Polymorphism, Premature ovarian failure, Receptor, Reference proteome, Transcription, Transcription regulation, Ubl conjugation, Zinc, Zinc-finger,
UP_SEQ_FEATURE binding site:Lipid headgroup, binding site:Lipid headgroup; via amide nitrogen, chain:Steroidogenic factor 1, cross-link:Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO), DNA-binding region:Nuclear receptor, helix, modified residue, mutagenesis site, region of interest:Important for dimerization, region of interest:Ligand-binding, sequence conflict, sequence variant, strand, zinc finger region:NR C4-type,
UP_TISSUE Pancreas, Spleen,
84304 nudix hydrolase 22(NUDT22) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000149761,
GAD_DISEASE Attention Deficit Disorder with Hyperactivity, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_CC_DIRECT nucleoplasm,
GOTERM_MF_DIRECT protein binding, hydrolase activity,
INTERPRO NUDIX hydrolase domain,
OFFICIAL_GENE_SYMBOL NUDT22,
PUBMED_ID 12477932, 15489334, 19913121, 20237496, 20628086, 21784300, 25416956, 26186194,
UP_KEYWORDS Alternative splicing, Complete proteome, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Nucleoside diphosphate-linked moiety X motif 22, domain:Nudix hydrolase, sequence conflict, sequence variant, splice variant,
UP_TISSUE Uterus,
23363 obscurin like 1(OBSL1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000124006,
GOTERM_BP_DIRECT microtubule cytoskeleton organization, cytoskeleton organization, Golgi organization, regulation of mitotic nuclear division, protein localization to Golgi apparatus, positive regulation of dendrite morphogenesis, cardiac myofibril assembly,
GOTERM_CC_DIRECT cytoplasm, Golgi apparatus, centrosome, intercalated disc, Z disc, M band, perinuclear region of cytoplasm, 3M complex,
GOTERM_MF_DIRECT protein binding, cytoskeletal adaptor activity, kinase activity,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Fibronectin, type III, Immunoglobulin-like domain, Immunoglobulin I-set, Immunoglobulin-like fold,
OFFICIAL_GENE_SYMBOL OBSL1,
OMIM_DISEASE 3-M syndrome 2,
PFAM Immunoglobulin I-set domain,
PUBMED_ID 12168954, 12477932, 14702039, 15174051, 15489334, 17289344, 18477606, 19481195, 19877176, 20301654, 20489725, 20498229, 20562859, 20797700, 21572988, 21737058, 21903422, 22156540, 23018678, 23443559, 23455922, 23602568, 24711643, 24778252, 24793695, 24989974, 25277244, 25476789, 25609649, 25752541, 25814554, 26186194, 8619474, 8681137, 9110174, 9734811,
SMART IGc2, IG,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Cytoplasm, Cytoskeleton, Disulfide bond, Dwarfism, Golgi apparatus, Immunoglobulin domain, Kinase, Phosphoprotein, Proteomics identification, Reference proteome, Repeat, Transferase,
UP_TISSUE Liver, Thyroid gland,
84033 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF(OBSCN) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000154358,
GAD_DISEASE macular degeneration, Tobacco Use Disorder,
GOTERM_BP_DIRECT protein phosphorylation, multicellular organism development, regulation of Rho protein signal transduction, protein localization to M-band, positive regulation of apoptotic process, positive regulation of GTPase activity, sarcomere organization, regulation of small GTPase mediated signal transduction,
GOTERM_CC_DIRECT cytosol, myofibril, Z disc, M band,
GOTERM_MF_DIRECT protein kinase activity, protein serine/threonine kinase activity, guanyl-nucleotide exchange factor activity, Rho guanyl-nucleotide exchange factor activity, protein binding, calmodulin binding, ATP binding, structural constituent of muscle, ankyrin binding, titin binding, metal ion binding,
INTERPRO IQ motif, EF-hand binding site, Dbl homology (DH) domain, Protein kinase, catalytic domain, Src homology-3 domain, Pleckstrin homology domain, Immunoglobulin/major histocompatibility complex, conserved site, Immunoglobulin subtype 2, Immunoglobulin subtype, Fibronectin, type III, Immunoglobulin-like domain, Tyrosine-protein kinase, active site, Serine/threonine-protein kinase, active site, Protein kinase-like domain, Pleckstrin homology-like domain, Immunoglobulin I-set, Immunoglobulin V-set, Immunoglobulin-like fold, Protein kinase, ATP binding site,
OFFICIAL_GENE_SYMBOL OBSCN,
PFAM Fibronectin type III domain, Protein kinase domain, IQ calmodulin-binding motif, RhoGEF domain, Immunoglobulin I-set domain,
PUBMED_ID 10997877, 11448995, 11717165, 11756498, 11814696, 12376548, 12477932, 12527750, 12631729, 12787561, 14702039, 15013951, 15146197, 15185077, 15489334, 16205939, 16344560, 16625316, 16710414, 16962094, 17360660, 17382936, 17716621, 17720975, 18029348, 18350308, 18782775, 19258391, 20379614, 20467438, 20489725, 22020285, 22251166, 22441987, 22573887, 22658674, 23414517, 23537643, 25184681, 25261370, 25381817, 25490259, 26147384, 26406308, 26496610,
SMART IQ, FN3, S_TKc, PH, RhoGEF, IGv, IGc2, IG,
UP_KEYWORDS 3D-structure, Alternative splicing, ATP-binding, Calmodulin-binding, Chromosomal rearrangement, Coiled coil, Complete proteome, Cytoplasm, Developmental protein, Differentiation, Disulfide bond, Immunoglobulin domain, Kinase, Magnesium, Metal-binding, Muscle protein, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Serine/threonine-protein kinase, SH3 domain, Transferase,
UP_SEQ_FEATURE active site:Proton acceptor, binding site:ATP, chain:Obscurin, compositionally biased region:Poly-Ala, compositionally biased region:Poly-Gln, compositionally biased region:Poly-Leu, compositionally biased region:Poly-Ser, compositionally biased region:Pro-rich, disulfide bond, domain:DH, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:Fibronectin type-III 3, domain:Fibronectin type-III 4, domain:Ig-like 1, domain:Ig-like 10, domain:Ig-like 11, domain:Ig-like 12, domain:Ig-like 13, domain:Ig-like 14, domain:Ig-like 15, domain:Ig-like 16, domain:Ig-like 17, domain:Ig-like 18, domain:Ig-like 19, domain:Ig-like 2, domain:Ig-like 20, domain:Ig-like 21, domain:Ig-like 22, domain:Ig-like 23, domain:Ig-like 24, domain:Ig-like 25, domain:Ig-like 26, domain:Ig-like 27, domain:Ig-like 28, domain:Ig-like 29, domain:Ig-like 3, domain:Ig-like 30, domain:Ig-like 31, domain:Ig-like 32, domain:Ig-like 33, domain:Ig-like 34, domain:Ig-like 35, domain:Ig-like 36, domain:Ig-like 37, domain:Ig-like 38, domain:Ig-like 39, domain:Ig-like 4, domain:Ig-like 40, domain:Ig-like 41, domain:Ig-like 42, domain:Ig-like 43, domain:Ig-like 44, domain:Ig-like 45, domain:Ig-like 46, domain:Ig-like 47, domain:Ig-like 48, domain:Ig-like 49, domain:Ig-like 5, domain:Ig-like 50, domain:Ig-like 51, domain:Ig-like 52, domain:Ig-like 53, domain:Ig-like 54, domain:Ig-like 55, domain:Ig-like 6, domain:Ig-like 7, domain:Ig-like 8, domain:Ig-like 9, domain:IQ, domain:PH, domain:Protein kinase 1, domain:Protein kinase 2, domain:SH3, helix, modified residue, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant, strand, turn,
UP_TISSUE Brain, Cardiac myocyte, Heart, PCR rescued clones, Placenta, Stomach,
401427 olfactory receptor family 2 subfamily A member 7(OR2A7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000243896,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT transmembrane signaling receptor activity, G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR2A7,
PUBMED_ID 12213199, 12477932, 14983052,
UP_KEYWORDS Cell membrane, Complete proteome, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 2A4, chain:Olfactory receptor 2A7, glycosylation site:N-linked (GlcNAc...), sequence conflict, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Liver,
403239 olfactory receptor family 2 subfamily T member 27(OR2T27) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000187701,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, sensory perception of smell, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR2T27,
PUBMED_ID 14983052,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 2T27, chain:Olfactory receptor 2T7, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
81327 olfactory receptor family 4 subfamily A member 16(OR4A16) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000181961,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT transmembrane signaling receptor activity, G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR4A16,
PUBMED_ID 12477932, 14983052,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 4A16, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
403253 olfactory receptor family 4 subfamily A member 47(OR4A47) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000237388,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT transmembrane signaling receptor activity, G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR4A47,
PUBMED_ID 12213199, 12477932, 14983052, 16554811, 24144296,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 4A47, chain:Putative olfactory receptor 4A4, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
79544 olfactory receptor family 4 subfamily K member 1(OR4K1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000155249,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT transmembrane signaling receptor activity, G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR4K1,
PUBMED_ID 12213199, 12477932, 14983052, 19490893,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 4K1, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
403274 olfactory receptor family 5 subfamily H member 15(OR5H15) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000233412,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, olfactory receptor activity, odorant binding,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
OFFICIAL_GENE_SYMBOL OR5H15,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 5H15, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
143496 olfactory receptor family 52 subfamily B member 4 (gene/pseudogene)(OR52B4) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000221996,
GAD_DISEASE Narcolepsy,
GOTERM_BP_DIRECT signal transduction, G-protein coupled receptor signaling pathway, cognition, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, olfactory receptor activity,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR52B4,
PUBMED_ID 12477932, 14983052, 16939646, 20677014, 22908908, 23227193,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 52B4, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
219469 olfactory receptor family 8 subfamily H member 1(OR8H1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000181693,
GOTERM_BP_DIRECT G-protein coupled receptor signaling pathway, detection of chemical stimulus involved in sensory perception of smell,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, olfactory receptor activity, odorant binding,
INTERPRO G protein-coupled receptor, rhodopsin-like, Olfactory receptor, GPCR, rhodopsin-like, 7TM,
KEGG_PATHWAY Olfactory transduction,
OFFICIAL_GENE_SYMBOL OR8H1,
PUBMED_ID 12477932, 14983052,
UP_KEYWORDS Cell membrane, Complete proteome, Disulfide bond, G-protein coupled receptor, Glycoprotein, Membrane, Olfaction, Polymorphism, Receptor, Reference proteome, Sensory transduction, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Olfactory receptor 8H1, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
92736 otopetrin 2(OTOP2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000183034,
GOTERM_CC_DIRECT integral component of membrane,
INTERPRO Otopetrin,
OFFICIAL_GENE_SYMBOL OTOP2,
PFAM Otopetrin,
PUBMED_ID 12651873,
UP_KEYWORDS Complete proteome, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Otopetrin-2, sequence variant, transmembrane region,
5546 papillary renal cell carcinoma (translocation-associated)(PRCC) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000143294,
GOTERM_BP_DIRECT mitotic cell cycle checkpoint,
GOTERM_CC_DIRECT nucleus, spliceosomal complex,
GOTERM_MF_DIRECT protein binding,
INTERPRO Mitotic checkpoint protein PRCC, C-terminal,
KEGG_PATHWAY Transcriptional misregulation in cancer,
OMIM_DISEASE Renal cell carcinoma, papillary,
PFAM Mitotic checkpoint regulator, MAD2B-interacting,
PUBMED_ID 10644981, 11313942, 11435707, 11717438, 12477932, 14702039, 14718574, 15489334, 17081983, 17332742, 18029348, 18976975, 19422821, 20029029, 20467437, 22113938, 22365833, 22939629, 24999758, 26186194, 26496610, 26673895, 26871637, 7507566, 7853572, 8431910, 8872474, 8986805,
UP_KEYWORDS Cell cycle, Chromosomal rearrangement, Complete proteome, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Proto-oncogene, Reference proteome,
UP_SEQ_FEATURE chain:Proline-rich protein PRCC, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Pro, compositionally biased region:Poly-Thr, modified residue, sequence variant,
UP_TISSUE Brain, Caudate nucleus, Epithelium, Lung, Monocyte,
342979 paralemmin 3(PALM3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000187867,
GOTERM_BP_DIRECT negative regulation of cytokine-mediated signaling pathway, Toll signaling pathway, response to lipopolysaccharide,
GOTERM_CC_DIRECT cytoplasm, plasma membrane,
GOTERM_MF_DIRECT protein binding, ATP binding,
INTERPRO Paralemmin-3,
OFFICIAL_GENE_SYMBOL PALM3,
PUBMED_ID 10737800, 15057824, 21187075, 25277244,
UP_KEYWORDS ATP-binding, Cell membrane, Coiled coil, Complete proteome, Cytoplasm, Lipoprotein, Membrane, Methylation, Nucleotide-binding, Palmitate, Phosphoprotein, Polymorphism, Prenylation, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Paralemmin-3, compositionally biased region:Glu-rich, lipid moiety-binding region:S-farnesyl cysteine, lipid moiety-binding region:S-palmitoyl cysteine, modified residue, propeptide:Removed in mature form, sequence variant,
5116 pericentrin(PCNT) Related Genes Homo sapiens
BIOCARTA Protein Kinase A at the Centrosome,
ENSEMBL_GENE_ID ENSG00000160299,
GAD_DISEASE Alzheimer's disease , Bipolar Disorder, Bone Density, Breast Cancer, Glomerular Filtration Rate, major depressive disorder, Neuropsychological Tests, Schizophrenia, schizophrenia | bipolar disorder, Triglycerides,
GOTERM_BP_DIRECT G2/M transition of mitotic cell cycle, microtubule cytoskeleton organization, mitotic spindle organization, cilium assembly, positive regulation of intracellular protein transport,
GOTERM_CC_DIRECT cytoplasm, centrosome, centriole, cytosol, microtubule, membrane, centriolar satellite,
GOTERM_MF_DIRECT protein binding, calmodulin binding,
INTERPRO Pericentrin/AKAP-450 centrosomal targeting domain, Pericentrin,
OFFICIAL_GENE_SYMBOL PCNT,
OMIM_DISEASE Microcephalic osteodysplastic primordial dwarfism, type II,
PFAM Pericentrin-AKAP-450 domain of centrosomal targeting protein,
PUBMED_ID 10753751, 10823944, 10830953, 10893222, 11076968, 11171385, 12168954, 12221128, 12477932, 12812986, 12852856, 12906865, 14702039, 14767062, 15094396, 15337773, 15342556, 16198290, 16251193, 16462731, 16565220, 16760425, 16980960, 17626165, 17884020, 18029348, 18157127, 18174396, 18701509, 18955030, 19191256, 19204726, 19251251, 19448849, 19543530, 19546241, 19643772, 19937158, 19946888, 20186884, 20466722, 20467437, 20508983, 20567258, 20599736, 20676397, 21270239, 21399614, 21423216, 21567919, 22184200, 22542101, 22552340, 22586326, 22722493, 22797915, 22990118, 23798705, 23979692, 24106199, 24421332, 24457600, 24466316, 24613305, 24711643, 24816561, 25220058, 25281560, 25503564, 26186194, 26231886, 26460568, 26496610, 26631746, 26638075, 26647647, 7790358, 8812505, 9455477,
UP_KEYWORDS Alternative splicing, Calmodulin-binding, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Dwarfism, Microtubule, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Pericentrin, compositionally biased region:Glu-rich, modified residue, mutagenesis site, region of interest:Calmodulin-binding, sequence conflict, sequence variant,
UP_TISSUE Brain, Epithelium, Eye, Trachea,
5187 period circadian clock 1(PER1) Related Genes Homo sapiens
BIOCARTA Circadian Rhythms,
ENSEMBL_GENE_ID ENSG00000179094,
GAD_DISEASE ADHD | attention-deficit hyperactivity disorder, autism, Bipolar Disorder, Breast Cancer, cocaine abuse, delayed sleep phase syndrome, Depression, diurnal preference, prostate cancer, Prostatic Neoplasms, schizophrenia | bipolar disorder, Sleep Disorders,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, regulation of sodium ion transport, transcription, DNA-templated, circadian rhythm, entrainment of circadian clock, posttranscriptional regulation of gene expression, circadian regulation of gene expression, regulation of hair cycle, regulation of circadian rhythm, negative regulation of I-kappaB kinase/NF-kappaB signaling, entrainment of circadian clock by photoperiod, histone H3 acetylation, histone H4 acetylation, negative regulation of transcription, DNA-templated, positive regulation of transcription from RNA polymerase II promoter, negative regulation of JNK cascade, response to cAMP, histone H3 deacetylation, circadian regulation of translation, regulation of cytokine production involved in inflammatory response, regulation of p38MAPK cascade, negative regulation of glucocorticoid receptor signaling pathway,
GOTERM_CC_DIRECT nucleus, cytoplasm,
GOTERM_MF_DIRECT RNA polymerase II core promoter proximal region sequence-specific DNA binding, transcription factor activity, transcription factor binding, transcription factor binding, kinase binding, chromatin DNA binding, ubiquitin protein ligase binding, E-box binding,
INTERPRO PAS domain, PAS fold-3, Period circadian-like, C-terminal,
KEGG_PATHWAY Circadian rhythm, Circadian entrainment, Herpes simplex infection,
OFFICIAL_GENE_SYMBOL PER1,
PFAM PAS fold, Period protein 2/3C-terminal region,
PUBMED_ID 10531061, 10790862, 10837028, 10848614, 10857746, 10940553, 11119726, 11165242, 11306557, 11597585, 11726537, 11865049, 12477932, 12782655, 12893774, 12916719, 14645221, 14712925, 14750904, 15781181, 15790588, 15800623, 15917222, 16344560, 16528748, 16678109, 16757810, 17051316, 17081983, 17106427, 17264841, 17274950, 17440215, 17463251, 17592726, 17621597, 17699798, 17718421, 17971899, 17984998, 17994337, 18095154, 18228528, 18321934, 18411297, 18444243, 18480551, 18821565, 18990770, 19013183, 19058789, 19148895, 19296127, 19675098, 19693801, 19752089, 19839995, 19861640, 19912323, 19923301, 19934327, 20072116, 20174623, 20360068, 20481271, 20541418, 20861012, 20978934, 21380491, 21411511, 21459569, 21988832, 22217103, 22801371, 22990118, 23034908, 23129285, 23133559, 23242607, 23405233, 23455922, 23503662, 23546644, 23555304, 23584858, 23752693, 24005054, 24154698, 24449901, 24551282, 24578160, 24678593, 24722188, 24857656, 25070164, 25310406, 25344870, 25416956, 25515538, 25550826, 25609649, 25756610, 25814554, 25863084, 26168277, 26186194, 26319354, 26339386, 26377793, 26496610, 26507264, 26624862, 26673895, 26850841, 9323128, 9333243, 9427249, 9455484, 9856465,
SMART PAS,
UP_KEYWORDS 3D-structure, Alternative splicing, Biological rhythms, Complete proteome, Cytoplasm, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transcription, Transcription regulation, Ubl conjugation,
UP_SEQ_FEATURE chain:Period circadian protein homolog 1, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Ser, compositionally biased region:Pro-rich, compositionally biased region:Ser-rich, domain:PAC, domain:PAS 1, domain:PAS 2, modified residue, region of interest:CRY binding domain, region of interest:CSNK1E binding domain, sequence variant, short sequence motif:Nuclear export signal, short sequence motif:Nuclear localization signal,
UP_TISSUE Brain, Epithelium, Heart, Peripheral Nervous System,
5142 phosphodiesterase 4B(PDE4B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000184588,
GAD_DISEASE Alcoholism, Amyotrophic Lateral Sclerosis, Apolipoproteins E, Atrial Function, Left, bipolar disorder schizophrenia, Blood Flow Velocity, Blood Pressure, Carotid Artery Diseases, Celiac Disease|, Cholesterol, HDL, Dyskinesia, Drug-Induced, Echocardiographic traits, Echocardiography, Fibrinogen, major depressive disorder, Multiple Sclerosis, Schizophrenia, schizophrenia | bipolar disorder, Stroke, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT neutrophil homeostasis, cAMP catabolic process, signal transduction, neutrophil chemotaxis, positive regulation of interferon-gamma production, positive regulation of interleukin-2 production, cellular response to drug, T cell receptor signaling pathway, leukocyte migration, cellular response to lipopolysaccharide, cellular response to epinephrine stimulus, regulation of cardiac muscle cell contraction, regulation of high voltage-gated calcium channel activity, negative regulation of relaxation of cardiac muscle,
GOTERM_CC_DIRECT gamma-tubulin complex, centrosome, cytosol, voltage-gated calcium channel complex, synaptic vesicle, postsynaptic density, membrane, Z disc, dendritic spine, cell periphery,
GOTERM_MF_DIRECT 3',5'-cyclic-nucleotide phosphodiesterase activity, 3',5'-cyclic-AMP phosphodiesterase activity, cAMP binding, ion channel binding, metal ion binding,
INTERPRO 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain, HD/PDEase domain, 3'5'-cyclic nucleotide phosphodiesterase, 3'5'-cyclic nucleotide phosphodiesterase, conserved site,
KEGG_PATHWAY Purine metabolism, cAMP signaling pathway, Morphine addiction,
OFFICIAL_GENE_SYMBOL PDE4B,
PFAM 3'5'-cyclic nucleotide phosphodiesterase,
PUBMED_ID 10385698, 10846163, 11114167, 11156964, 11468344, 11839681, 12032334, 12441002, 12477932, 14585965, 14702039, 15003452, 15146197, 15174051, 15260978, 15331441, 15576036, 15685167, 16293762, 16344560, 16997058, 17043677, 17088426, 17404263, 17417055, 17481393, 17519386, 17727341, 17728464, 17823207, 17903301, 18029348, 18329668, 18394866, 18687753, 18785206, 18983980, 19060910, 19240061, 19251251, 19350560, 19506219, 19632097, 19728060, 19834503, 19913121, 20201926, 20347962, 20379614, 20436352, 20628086, 20701803, 21047676, 21184794, 21358715, 21520048, 21595828, 21652625, 21742807, 21854221, 22076464, 22160351, 22384243, 22529021, 22566634, 22610099, 22658674, 22832604, 23007406, 23451206, 23575688, 24722188, 24732776, 24847357, 25831493, 25921289, 25926551, 26011935, 26673895, 26756575, 7835077, 7958996, 8009369, 8384210, 8392015, 8413254, 9371714, 9882697,
SMART HDc,
UP_KEYWORDS 3D-structure, Alternative splicing, cAMP, Complete proteome, Hydrolase, Metal-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE active site:Proton donor, binding site:cAMP, chain:cAMP-specific 3',5'-cyclic phosphodiesterase 4B, helix, metal ion-binding site:Divalent metal cation 1, metal ion-binding site:Divalent metal cation 2, modified residue, nucleotide phosphate-binding region:cAMP, sequence variant, site:Binds AMP, but not cAMP, splice variant, strand, turn,
UP_TISSUE Brain, Hippocampus, Retina,
9659 phosphodiesterase 4D interacting protein(PDE4DIP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000178104,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT actin cytoskeleton organization, cellular protein complex assembly,
GOTERM_CC_DIRECT nucleus, cytoplasm, Golgi apparatus, centrosome, microtubule organizing center, myofibril,
GOTERM_MF_DIRECT protein binding, enzyme binding,
INTERPRO Profilin, chordates, Profilin, Neuroblastoma breakpoint family (NBPF) domain, Spindle associated,
OFFICIAL_GENE_SYMBOL PDE4DIP,
PFAM Repeat of unknown function (DUF1220), Microtubule associated,
PUBMED_ID 11134006, 11374908, 12477932, 12693553, 14702039, 15231748, 15342556, 16344560, 16713569, 16969126, 17043677, 17143517, 17207965, 17923693, 18029348, 18482256, 18685082, 19322201, 20379614, 21399614, 21516116, 21569246, 21767579, 21900206, 21988832, 22558309, 22792062, 22864933, 23455922, 23455924, 24457600, 24722188, 25416956, 25961151, 26186194, 26496610, 8889549, 9455484,
SMART SM01148,
UP_KEYWORDS Alternative splicing, Chromosomal rearrangement, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Golgi apparatus, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Myomegalin, domain:NBPF, sequence conflict, sequence variant, site:Breakpoint for insertion to form PDE4DIP- PDGFRB fusion protein, splice variant,
UP_TISSUE Amygdala, Brain, Lung, Myocardium, Placenta, Skeletal muscle,
5239 phosphoglucomutase 5(PGM5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000154330,
GOTERM_BP_DIRECT carbohydrate metabolic process, glycogen biosynthetic process, glucose metabolic process, cell adhesion, galactose catabolic process,
GOTERM_CC_DIRECT stress fiber, cytosol, cell-cell adherens junction, spot adherens junction, focal adhesion, cytoplasmic side of plasma membrane, intercalated disc, dystrophin-associated glycoprotein complex, Z disc, sarcolemma, costamere,
GOTERM_MF_DIRECT magnesium ion binding, phosphoglucomutase activity, structural molecule activity, intramolecular transferase activity, phosphotransferases,
INTERPRO Alpha-D-phosphohexomutase superfamily, Alpha-D-phosphohexomutase, C-terminal, Alpha-D-phosphohexomutase, alpha/beta/alpha domain I, Alpha-D-phosphohexomutase, alpha/beta/alpha domain II, Alpha-D-phosphohexomutase, alpha/beta/alpha domain III, Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III, Alpha-D-phosphohexomutase, conserved site,
OFFICIAL_GENE_SYMBOL PGM5,
PFAM Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I, Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II, Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III,
PUBMED_ID 10867799, 12477932, 22925353, 22939629, 24963132, 26344197, 7589238, 7890770, 8175905, 8586438, 8631316, 9342213,
UP_KEYWORDS Alternative splicing, Carbohydrate metabolism, Cell adhesion, Cell junction, Complete proteome, Cytoplasm, Cytoskeleton, Direct protein sequencing, Glucose metabolism, Magnesium, Metal-binding, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Phosphoglucomutase-like protein 5, compositionally biased region:Poly-Ser, metal ion-binding site:Magnesium, modified residue, sequence conflict, splice variant,
UP_TISSUE Muscle, Uterus,
81579 phospholipase A2 group XIIA(PLA2G12A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000123739,
GAD_DISEASE Alcoholism, benzene haematotoxicity, macular degeneration, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT phospholipid metabolic process, phosphatidic acid biosynthetic process, lipid catabolic process, phosphatidylglycerol acyl-chain remodeling, phosphatidylinositol acyl-chain remodeling, phosphatidylserine acyl-chain remodeling, phosphatidylcholine acyl-chain remodeling, phosphatidylethanolamine acyl-chain remodeling, arachidonic acid secretion,
GOTERM_CC_DIRECT extracellular region, endoplasmic reticulum, Golgi apparatus,
GOTERM_MF_DIRECT phospholipase A2 activity, calcium ion binding, calcium-dependent phospholipase A2 activity,
INTERPRO Phospholipase A2, group XII secretory, Phospholipase A2 domain,
KEGG_PATHWAY Glycerophospholipid metabolism, Ether lipid metabolism, Arachidonic acid metabolism, Linoleic acid metabolism, alpha-Linolenic acid metabolism, Metabolic pathways, Ras signaling pathway, Vascular smooth muscle contraction, Pancreatic secretion, Fat digestion and absorption,
PFAM Group XII secretory phospholipase A2 precursor (PLA2G12),
PUBMED_ID 11031251, 11278438, 12477932, 12522102, 12975309, 14516201, 15489334, 16303743, 19773279, 19913121, 20332099, 20385819, 20628086, 21988832, 24366813, 9377118, 9745929,
UP_KEYWORDS Calcium, Complete proteome, Cytoplasm, Hydrolase, Lipid degradation, Lipid metabolism, Metal-binding, Proteomics identification, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE chain:Group XIIA secretory phospholipase A2, metal ion-binding site:Calcium, metal ion-binding site:Calcium; via carbonyl oxygen, sequence conflict, signal peptide,
UP_TISSUE Hippocampus, Uterus,
5317 plakophilin 1(PKP1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000081277,
GAD_DISEASE Asthma, Body Mass Index, Body Weight, Cholesterol, Cleft Lip|Cleft Palate, Heart Diseases, Hip, panic disorder, smoking cessation, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cell adhesion, signal transduction, multicellular organism development, single organismal cell-cell adhesion, intermediate filament bundle assembly,
GOTERM_CC_DIRECT nucleus, nucleoplasm, intermediate filament, plasma membrane, desmosome, intracellular membrane-bounded organelle, extracellular exosome,
GOTERM_MF_DIRECT signal transducer activity, protein binding, lamin binding, intermediate filament binding, structural constituent of epidermis,
INTERPRO Armadillo, Armadillo-like helical, Armadillo-type fold,
OMIM_DISEASE Ectodermal dysplasia/skin fragility syndrome,
PFAM Armadillo/beta-catenin-like repeat,
PUBMED_ID 10374265, 10852826, 10880961, 10951270, 11500511, 11790773, 11994137, 12477932, 12839569, 12840072, 14673151, 15663951, 15988759, 16159729, 16632867, 17593084, 17668353, 18029348, 18519826, 19016709, 19165232, 19615732, 19913121, 19945625, 20020773, 20156963, 20348237, 20379614, 20562859, 20613778, 20628086, 20634891, 21800051, 21947748, 22170739, 23376485, 23443559, 23444369, 24056861, 24457600, 24711643, 25225333, 25324306, 25416956, 25609649, 25631074, 25963833, 26138584, 26186194, 27015268, 7527055, 7890138, 9272178, 9326952, 9369526, 9606214, 9721216,
SMART ARM,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell adhesion, Cell junction, Complete proteome, Developmental protein, Ectodermal dysplasia, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Plakophilin-1, helix, modified residue, repeat:ARM 1, repeat:ARM 2, repeat:ARM 3, repeat:ARM 4, repeat:ARM 5, repeat:ARM 6, repeat:ARM 7, repeat:ARM 8, repeat:ARM 9, sequence conflict, sequence variant, splice variant, strand, turn,
UP_TISSUE Epidermis, PCR rescued clones,
5318 plakophilin 2(PKP2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000057294,
GAD_DISEASE Arrhythmias, Cardiac|Arrhythmogenic Right Ventricular Dysplasia, arrhythmogenic right ventricular cardiomyopathy/dysplasia, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmogenic Right Ventricular Dysplasia|, Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathies, Arrhythmogenic Right Ventricular Dysplasia|Death, Sudden, Cardiac|Sudden Cardiac Death, Arrhythmogenic Right Ventricular Dysplasia|Tachycardia, Ventricular, cardiomyopathy, null,
GOTERM_BP_DIRECT desmosome assembly, heart development, negative regulation of cell proliferation, positive regulation of sodium ion transport, gap junction assembly, single organismal cell-cell adhesion, negative regulation of cell migration, adherens junction maintenance, intermediate filament bundle assembly, maintenance of organ identity, ventricular cardiac muscle tissue morphogenesis, lipid homeostasis, cardiac muscle cell action potential, cardiac muscle cell action potential involved in contraction, ventricular cardiac muscle cell action potential, cell-cell signaling involved in cardiac conduction, cell communication by electrical coupling involved in cardiac conduction, bundle of His cell-Purkinje myocyte adhesion involved in cell communication, regulation of heart rate by cardiac conduction, establishment of protein localization to plasma membrane, regulation of ventricular cardiac muscle cell action potential, regulation of bicellular tight junction assembly,
GOTERM_CC_DIRECT nucleus, nucleoplasm, intermediate filament, plasma membrane, cell-cell junction, adherens junction, cell-cell adherens junction, intercalated disc, integral component of membrane, cell junction, desmosome,
GOTERM_MF_DIRECT protein kinase C binding, protein binding, sodium channel regulator activity, intermediate filament binding, protein complex scaffold, ion channel binding, alpha-catenin binding, cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication, cadherin binding involved in cell-cell adhesion,
INTERPRO Armadillo, Armadillo-like helical, Armadillo-type fold,
KEGG_PATHWAY Arrhythmogenic right ventricular cardiomyopathy (ARVC),
OMIM_DISEASE Arrhythmogenic right ventricular dysplasia 9,
PFAM Armadillo/beta-catenin-like repeat,
PUBMED_ID 10374264, 10374265, 10828611, 10852826, 11416169, 11790773, 12477932, 12941695, 15231748, 15324660, 15489853, 15778465, 16344560, 16415378, 16549640, 16567567, 16876743, 17010805, 17041889, 17521752, 17979178, 17980246, 18029348, 18474624, 18596851, 18632414, 18662195, 19084810, 19302745, 19427443, 19533476, 19551809, 19863551, 19880068, 19955750, 20031616, 20031617, 20215590, 20301310, 20400443, 20554761, 20693980, 20859650, 20864495, 21145461, 21378009, 21947748, 22019812, 22035158, 22119253, 22170284, 22751105, 22781308, 22889254, 23136403, 23147395, 23251661, 23270881, 23443559, 23486541, 23602568, 23651034, 23788249, 23863954, 23884246, 24189400, 24255178, 24276085, 24352520, 24457600, 24704780, 24778252, 24967631, 25087486, 25113560, 25398255, 25416956, 25468996, 25786693, 25852190, 25857910, 25889434, 25900994, 25936878, 25972099, 26186194, 26260507, 26321091, 26465331, 26496610, 26638075, 26995964, 8922383, 9721216,
SMART ARM,
UP_KEYWORDS 3D-structure, Alternative splicing, Cardiomyopathy, Cell adhesion, Cell junction, Complete proteome, Disease mutation, Methylation, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Plakophilin-2, modified residue, repeat:ARM 1, repeat:ARM 2, repeat:ARM 3, repeat:ARM 4, repeat:ARM 5, repeat:ARM 6, repeat:ARM 7, repeat:ARM 8, sequence variant, splice variant,
UP_TISSUE Brain, Placenta,
5329 plasminogen activator, urokinase receptor(PLAUR) Related Genes Homo sapiens
BBID 73.Integrins_and_other_cell-surface_receptors,
ENSEMBL_GENE_ID ENSG00000011422,
GAD_DISEASE Asthma|Bronchial Hyperreactivity|, Asthma|Pulmonary Disease, Chronic Obstructive, Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes, Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth, Chronic renal failure|Kidney Failure, Chronic, Forced Expiratory Volume, Lung Cancer, lung cancer , Myocardial Infarction, ovarian cancer, Placenta Diseases, Premature Birth, Scleroderma, Systemic|Systemic Scleroderma|Vascular Diseases, Stroke, Type 2 Diabetes| edema | rosiglitazone, Waist-Hip Ratio,
GOTERM_BP_DIRECT positive regulation of protein phosphorylation, movement of cell or subcellular component, chemotaxis, signal transduction, blood coagulation, attachment of GPI anchor to protein, regulation of proteolysis, urokinase plasminogen activator signaling pathway, fibrinolysis, negative regulation of apoptotic process, positive regulation of DNA binding, positive regulation of epidermal growth factor receptor signaling pathway, positive regulation of release of cytochrome c from mitochondria, negative regulation of intrinsic apoptotic signaling pathway, negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway,
GOTERM_CC_DIRECT endoplasmic reticulum lumen, endoplasmic reticulum membrane, plasma membrane, integral component of plasma membrane, focal adhesion, integral component of membrane, extrinsic component of membrane, anchored component of membrane, extracellular exosome, invadopodium membrane,
GOTERM_MF_DIRECT receptor activity, receptor binding, protein binding, kinase activity, enzyme binding, protein domain specific binding, urokinase plasminogen activator receptor activity,
INTERPRO Ly-6 antigen / uPA receptor -like, CD59 antigen, conserved site,
KEGG_PATHWAY Complement and coagulation cascades, Proteoglycans in cancer,
PFAM u-PAR/Ly-6 domain,
PUBMED_ID 10388537, 10537314, 10636902, 10722370, 10744708, 10749881, 11051819, 11097855, 11290596, 11359936, 11384978, 11501527, 11728456, 11756447, 11814408, 11903048, 11928806, 11928807, 11928816, 11928822, 11959893, 12017319, 12023845, 12023847, 12070711, 12084931, 12115506, 12124797, 12130664, 12138365, 12174885, 12180971, 12194987, 12195704, 12244126, 12297505, 12376466, 12393547, 12393744, 12405290, 12477932, 12479856, 12493773, 12665127, 12665524, 12704669, 12708473, 12736046, 12761227, 12881310, 12933356, 12952933, 12960238, 1311495, 1316922, 1324136, 1325912, 14500474, 14507113, 14517288, 14517339, 14520707, 14531820, 14563447, 14601049, 14602715, 14660675, 14668033, 14688365, 14702177, 14729600, 14764427, 14764453, 14764580, 14961171, 14995994, 15031282, 15031672, 15032076, 15042374, 15044324, 15057824, 15122709, 15182581, 15188055, 15243126, 15248186, 15285727, 15302576, 15326109, 15358545, 15375521, 15381392, 15489334, 15494432, 15494526, 15515049, 15521066, 15543615, 15573379, 15677461, 15684035, 15711734, 15728176, 15824107, 15831288, 15841307, 15849776, 15851910, 15861141, 15863511, 15866865, 15885322, 15889147, 15894933, 15922359, 15951330, 16010978, 16077991, 16127174, 16169070, 16216813, 16267271, 16395714, 16456079, 16467878, 16497155, 16504015, 16510444, 16516155, 16525631, 16564525, 16601839, 16602701, 16632475, 16685436, 16756681, 16858643, 16879932, 1689240, 16893520, 16905120, 16912170, 16949925, 17001307, 17028265, 17079488, 17101149, 17145753, 17237151, 17264329, 17297470, 17319000, 17327908, 17330942, 17344041, 17427199, 17487556, 17507651, 17510314, 17517866, 17523079, 17548471, 17548516, 17549401, 17664334, 17706320, 17880283, 17952591, 17963689, 18021410, 18029284, 18048089, 18056417, 18084301, 18095109, 18097558, 18247343, 18257282, 18315930, 18328568, 18362146, 18376415, 1846368, 18487955, 18508598, 18508599, 18511987, 18599586, 18644795, 18673553, 18691743, 18718938, 18725541, 18762175, 18788551, 18808175, 18813792, 18813852, 18819934, 18830568, 18940913, 18941116, 18949356, 18953252, 18954937, 18957516, 19008962, 19017363, 19020743, 19037107, 19050704, 19088796, 19115132, 19117638, 19123477, 19157142, 19176991, 19177204, 19298527, 19383607, 19403319, 19404710, 19411312, 19433314, 19435784, 19436306, 19443020, 19443353, 19461880, 19472211, 19475533, 19480010, 19497996, 19546228, 19609941, 19616049, 19635932, 19638192, 19642359, 19691446, 19693769, 19717562, 19740518, 19756998, 19782465, 19796867, 19878584, 19908229, 19913121, 20012874, 20051950, 20063318, 20140262, 20142364, 20145038, 20198323, 20237496, 20372789, 20403162, 20447686, 20452482, 20518747, 20558828, 20580686, 20624254, 20628086, 20628624, 20635136, 20648659, 20661471, 20673868, 20693875, 20696135, 20805979, 20840675, 20858596, 20886176, 20937265, 20967855, 20972812, 21060833, 21081472, 21088115, 21106094, 21106716, 21148633, 21181094, 21191179, 21224999, 21304107, 21354571, 21391216, 21419107, 21423176, 21426933, 21456072, 21470667, 21470685, 21478092, 21544310, 2156852, 21602447, 21630091, 21638078, 21702998, 21711960, 21744990, 21761413, 21799009, 21803847, 21804539, 21833477, 21840777, 21848504, 21896743, 21934527, 21945852, 22004682, 22025616, 22075245, 22098627, 22113150, 22119508, 22139533, 22177802, 22199285, 22287577, 22298164, 22363796, 22366462, 22459389, 22467324, 22470492, 22487523, 22577342, 22633212, 22702340, 22732587, 22782499, 22896701, 22906080, 22909410, 22939629, 22984561, 23030781, 23033975, 23049759, 23076139, 23117033, 23136192, 23138488, 23150653, 23172421, 23180655, 23222509, 23222817, 23238745, 23327926, 23376485, 23400595, 23408042, 23447064, 23486467, 23503679, 23512428, 23516493, 23525268, 23541763, 23565268, 23667902, 23709605, 23736353, 23742830, 23747086, 23806081, 23835994, 23842190, 23843896, 23874017, 23897640, 23923008, 23939376, 24162774, 24192237, 24217605, 24249636, 24253546, 24325546, 24466048, 24530340, 24575897, 24603291, 24604320, 24644284, 24648800, 24688027, 24699410, 24731575, 24742002, 24763226, 24807674, 24877154, 24882949, 24889870, 24987841, 24999729, 25014213, 25113506, 25120753, 25127435, 25154621, 25168639, 25174715, 25175595, 25185729, 25196912, 25215932, 25222341, 25236186, 25244504, 25310970, 25313007, 25315615, 25318615, 25319791, 25329298, 25444509, 2544876, 25456503, 25490122, 25500737, 25519042, 25544710, 25574858, 25575713, 25618124, 25661888, 25664394, 25692297, 25695339, 25704300, 25709430, 25771228, 25837250, 25925849, 26050228, 26082201, 26162494, 26186194, 26317203, 26380984, 26420039, 26451727, 26496610, 26504024, 26527290, 26577922, 26697731, 27078836, 3023326, 3031025, 7566098, 7605992, 8049431, 8392005, 8394346, 8830783, 9030717, 9353320, 9417082, 9566979, 9974409,
SMART LU,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell junction, Cell membrane, Cell projection, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, GPI-anchor, Kinase, Lipoprotein, Membrane, Polymorphism, Proteomics identification, Receptor, Reference proteome, Repeat, Secreted, Signal, Transferase,
UP_SEQ_FEATURE chain:Urokinase plasminogen activator surface receptor, disulfide bond, domain:UPAR/Ly6 1, domain:UPAR/Ly6 2, domain:UPAR/Ly6 3, glycosylation site:N-linked (GlcNAc...), helix, lipid moiety-binding region:GPI-anchor amidated glycine, propeptide:Removed in mature form, sequence conflict, sequence variant, signal peptide, site:Cleavage; by U-PA, splice variant, strand, turn,
UP_TISSUE Lung cancer, Placenta, Serum, Skin,
5340 plasminogen(PLG) Related Genes Homo sapiens
BIOCARTA Acute Myocardial Infarction, Fibrinolysis Pathway, Platelet Amyloid Precursor Protein Pathway,
ENSEMBL_GENE_ID ENSG00000122194,
GAD_DISEASE Alzheimer's Disease, Aspergillosis|Lung Diseases, Fungal, Body Height, Carotid Artery Diseases, Endometriosis, Hepatopulmonary Syndrome|Liver Cirrhosis, lipoprotein A-I, Lipoprotein(a), Lipoproteins, Parkinson Disease, Premature Birth, thrombosis, deep vein, Type 2 Diabetes| edema | rosiglitazone, vascular disease,
GOTERM_BP_DIRECT platelet degranulation, proteolysis, blood coagulation, negative regulation of cell proliferation, negative regulation of cell-substrate adhesion, extracellular matrix disassembly, fibrinolysis, cellular protein metabolic process, tissue remodeling, negative regulation of fibrinolysis, positive regulation of fibrinolysis, negative regulation of cell-cell adhesion mediated by cadherin,
GOTERM_CC_DIRECT extracellular region, extracellular space, plasma membrane, cell surface, platelet alpha granule lumen, extrinsic component of external side of plasma membrane, extracellular exosome, blood microparticle,
GOTERM_MF_DIRECT serine-type endopeptidase activity, receptor binding, protein binding, serine-type peptidase activity, protein domain specific binding, apolipoprotein binding,
INTERPRO Kringle, Peptidase S1, Peptidase S1A, chymotrypsin-type, Apple-like, Trypsin-like cysteine/serine peptidase domain, Kringle-like fold, Kringle, conserved site, Peptidase S1, trypsin family, active site, Peptidase S1A, plasmin,
KEGG_PATHWAY Neuroactive ligand-receptor interaction, Complement and coagulation cascades, Staphylococcus aureus infection, Influenza A,
OMIM_DISEASE Dysplasminogenemia, Plasminogen deficiency, type I,
PFAM PAN domain, Kringle domain, Trypsin,
PIR_SUPERFAMILY plasmin,
PUBMED_ID 10069369, 10077593, 10215610, 10218588, 10233898, 10512713, 10604721, 10625689, 10656799, 10700393, 10889192, 10928473, 10956663, 10964919, 10974350, 10978167, 11027681, 11100730, 11113116, 11169399, 11257124, 11263499, 11342539, 11350170, 11371191, 11438139, 11729324, 11888684, 11928826, 11939791, 12016220, 12036889, 12054798, 12080056, 12093796, 12189145, 12192005, 12228252, 122932, 12406896, 12456874, 12477932, 12604689, 12646571, 126863, 12692411, 12697748, 12700073, 12736244, 12871329, 12876630, 134998, 142009, 1427790, 14574404, 146197, 14678821, 14699093, 14719094, 14726399, 14739127, 14739293, 14764098, 14769799, 15090462, 15099286, 15207811, 15211511, 15215240, 15220341, 15299951, 15321992, 15333838, 15489334, 15501816, 15529749, 15609351, 15613921, 15642732, 15677446, 15746964, 158022, 15911629, 16043488, 16087677, 16097950, 16229836, 16319056, 16478887, 16480936, 16502470, 1657148, 1657149, 16601838, 16790522, 16828203, 17115186, 17200769, 17203182, 17206383, 17272502, 17307854, 17379720, 17545513, 17606760, 17616171, 17653767, 17656680, 17890952, 17927806, 17976375, 17978577, 18039838, 18070889, 18160581, 18163891, 18223261, 18279394, 18289715, 18310038, 18329389, 18331597, 18366077, 18392331, 18566672, 18568768, 18624398, 18658146, 18667578, 18685433, 18714035, 18981180, 18983515, 19074676, 1909331, 19158842, 19199708, 19308255, 19363026, 1939207, 19465692, 19574304, 19712047, 19800007, 19801674, 19821587, 19850343, 1986355, 19913121, 20028034, 20056908, 20095998, 20112045, 20140262, 20143645, 20152941, 20346360, 20346413, 20553606, 20565259, 20617841, 20628086, 2065054, 20655859, 20702651, 20709033, 20726765, 21072208, 21174000, 21236472, 21300353, 21316746, 21464960, 21467042, 21510941, 21543325, 2157850, 21680799, 21755014, 21787393, 21802507, 21832858, 21900290, 21988832, 21998162, 22027013, 22079981, 22124123, 22147698, 22187433, 22197896, 22287006, 22321644, 22507544, 22516433, 22518846, 22619171, 22641690, 22677171, 22685231, 22732096, 22773346, 22832192, 22974122, 22987920, 22996753, 23071278, 23071827, 23103380, 23118497, 23140098, 23150713, 2318848, 23341464, 23376485, 23449787, 23481605, 23533145, 23576799, 23583624, 23645683, 23699598, 23702659, 23721211, 23850366, 23853591, 23906818, 23912396, 23969887, 24029428, 24205998, 24263861, 24338014, 2437112, 24449821, 24457100, 24457600, 24605649, 24840471, 24909805, 25059665, 25128532, 25138220, 25208887, 2522013, 25222106, 25331947, 25407528, 25409527, 25466412, 25556624, 25712989, 25789495, 25993872, 26029848, 26067271, 26070561, 26359437, 26627825, 26637181, 26667841, 2745554, 2829380, 2962191, 2962641, 3030813, 3334852, 3356193, 3920216, 4226004, 4240117, 4694729, 479158, 5475635, 6094526, 6148961, 6216475, 6238949, 6438154, 6582496, 659588, 6838832, 6919539, 6980881, 7525077, 7538844, 7548163, 7586586, 7814888, 7982919, 8054447, 8162705, 8181475, 8181476, 8360181, 8392398, 8460120, 8478593, 8555184, 8611560, 8612605, 8652577, 8843739, 8910613, 9020112, 9054441, 9102221, 9102401, 9201958, 9234243, 9242524, 9305949, 9337997, 9360944, 9375744, 9428707, 9490681, 9521645, 9548733, 9596664, 9688635, 9737862, 9783753, 9786936, 9834305, 9858247,
SMART Tryp_SPc, KR, PAN_AP,
UP_KEYWORDS 3D-structure, Blood coagulation, Cleavage on pair of basic residues, Complete proteome, Direct protein sequencing, Disease mutation, Disulfide bond, Fibrinolysis, Glycoprotein, Hemostasis, Hydrolase, Kringle, Phosphoprotein, Polymorphism, Protease, Proteomics identification, Reference proteome, Repeat, Secreted, Serine protease, Signal, Thrombophilia, Tissue remodeling, Zymogen,
UP_SEQ_FEATURE active site:Charge relay system, binding site:Fibrin, binding site:Omega-aminocarboxylic acids, chain:Angiostatin, chain:Plasmin heavy chain A, chain:Plasmin heavy chain A, short form, chain:Plasmin light chain B, chain:plasminogen, disulfide bond, domain:Kringle 1, domain:Kringle 2, domain:Kringle 3, domain:Kringle 4, domain:Kringle 5, domain:PAN, domain:Peptidase S1, glycosylation site:N-linked (GlcNAc...), glycosylation site:O-linked (GalNAc...), helix, modified residue, peptide:Activation peptide, sequence conflict, sequence variant, signal peptide, site:Cleavage; by plasminogen activator, site:Cleavage; by stromelysin-1, site:Cleavage; by stromelysin-19, strand, turn,
UP_TISSUE Kidney, Liver, Milk,
11243 polyamine modulated factor 1(PMF1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000160783,
GAD_DISEASE Alcoholism,
GOTERM_BP_DIRECT regulation of transcription, DNA-templated, transcription from RNA polymerase II promoter, chromosome segregation, sister chromatid cohesion, mitotic nuclear division, cell division,
GOTERM_CC_DIRECT MIS12/MIND type complex, nucleoplasm, transcription factor complex, cytosol,
GOTERM_MF_DIRECT transcription coactivator activity, protein binding, leucine zipper domain binding,
INTERPRO Nnf1,
PFAM Nnf1 ,
PUBMED_ID 10419538, 11256947, 12020345, 12477932, 14702039, 15371340, 15489334, 15502821, 16169070, 16585270, 16710414, 17213182, 19088041, 20360068, 20404110, 21199919, 21988832, 22682992, 22869522, 23455924, 24656865, 25416956, 25852190, 26186194, 26496610,
UP_KEYWORDS Activator, Alternative splicing, Cell cycle, Cell division, Centromere, Chromosome, Chromosome partition, Coiled coil, Complete proteome, Kinetochore, Mitosis, Nucleus, Polymorphism, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Osteocalcin, chain:Polyamine-modulated factor 1, disulfide bond, domain:Gla, metal ion-binding site:Calcium 1, metal ion-binding site:Calcium 2, metal ion-binding site:Calcium 3, modified residue, sequence conflict, sequence variant, signal peptide, site:Not hydroxylated, splice variant,
UP_TISSUE Brain, Cerebellum, Colon, Lung carcinoma, Skin, Testis, Uterus,
93035 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1(PKHD1L1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000205038,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT immune response,
GOTERM_CC_DIRECT extracellular space, cytosol, cilium, integral component of membrane,
GOTERM_MF_DIRECT receptor activity,
INTERPRO Cell surface receptor IPT/TIG, Parallel beta-helix repeat, Cupredoxin, Pectin lyase fold/virulence factor, PA14, Immunoglobulin-like fold, Immunoglobulin E-set, G8 domain,
PFAM IPT/TIG domain, PA14 domain, G8 domain,
PUBMED_ID 11329013, 12477932, 12620974, 20379614, 21208571, 23251661,
SMART IPT, PbH1, PA14, SM01225,
UP_KEYWORDS Complete proteome, Glycoprotein, Membrane, Polymorphism, Proteomics identification, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Fibrocystin-L, compositionally biased region:Poly-Ser, domain:IPT/TIG 1, domain:IPT/TIG 10, domain:IPT/TIG 11, domain:IPT/TIG 12, domain:IPT/TIG 13, domain:IPT/TIG 14, domain:IPT/TIG 2, domain:IPT/TIG 3, domain:IPT/TIG 4, domain:IPT/TIG 5, domain:IPT/TIG 6, domain:IPT/TIG 7, domain:IPT/TIG 8, domain:IPT/TIG 9, glycosylation site:O-linked (GalNAc...), repeat:PbH1 1, repeat:PbH1 2, repeat:PbH1 3, repeat:PbH1 4, repeat:PbH1 5, repeat:PbH1 6, repeat:PbH1 7, repeat:PbH1 8, repeat:PbH1 9, sequence conflict, sequence variant, signal peptide, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Uterus,
79623 polypeptide N-acetylgalactosaminyltransferase 14(GALNT14) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000158089,
GAD_DISEASE Cholesterol, HIV-1, longevity, Tobacco Use Disorder,
GOTERM_BP_DIRECT protein glycosylation, O-glycan processing,
GOTERM_CC_DIRECT Golgi membrane, integral component of membrane,
GOTERM_MF_DIRECT polypeptide N-acetylgalactosaminyltransferase activity, transferase activity, transferring glycosyl groups, carbohydrate binding, metal ion binding,
INTERPRO Ricin B lectin domain, Glycosyl transferase, family 2,
KEGG_PATHWAY Mucin type O-Glycan biosynthesis, Metabolic pathways,
OFFICIAL_GENE_SYMBOL GALNT14,
PFAM Glycosyl transferase family 2, Ricin-type beta-trefoil lectin domain,
PUBMED_ID 12477932, 12507512, 12975309, 14702039, 15489334, 16344560, 17434446, 19805900, 20179215, 20356418, 20379614, 20800603, 22174851, 22441125, 23708057, 23959947, 24962947, 25102180, 26309160, 26544896, 26871639, 27124048, 8125298,
SMART RICIN,
UP_KEYWORDS Alternative splicing, Complete proteome, Disulfide bond, Glycosyltransferase, Golgi apparatus, Lectin, Manganese, Membrane, Metal-binding, Polymorphism, Proteomics identification, Reference proteome, Signal, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Polypeptide N- acetylgalactosaminyltransferase 14, disulfide bond, domain:Ricin B-type lectin, region of interest:Catalytic subdomain A, region of interest:Catalytic subdomain B, sequence conflict, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Eye, Fibroblast, Ovary, Retinoblastoma, Stomach, Teratocarcinoma,
5669 pregnancy specific beta-1-glycoprotein 1(PSG1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000231924,
GOTERM_BP_DIRECT defense response, female pregnancy,
GOTERM_CC_DIRECT extracellular region,
GOTERM_MF_DIRECT protein binding,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
PFAM Immunoglobulin V-set domain, Immunoglobulin domain,
PUBMED_ID 11076863, 12223519, 12477932, 14702039, 15057824, 15489334, 15489336, 1572651, 16169070, 16303743, 16344560, 16381901, 18987160, 19911417, 20335639, 21193412, 2341148, 2346748, 2350345, 2377620, 2537643, 2541441, 25416956, 25464930, 26186194, 2735907, 2783133, 2786492, 3180995, 3257488, 3260773, 3265688, 7794280, 9290143, 971765,
SMART IGc2, IG,
UP_KEYWORDS Alternative splicing, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Polymorphism, Pregnancy, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Pregnancy-specific beta-1-glycoprotein 1, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, domain:Ig-like C2-type 3, domain:Ig-like V-type, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Liver, Placenta,
5676 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)(PSG7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000221878,
GOTERM_BP_DIRECT female pregnancy,
GOTERM_CC_DIRECT extracellular region,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
PFAM Immunoglobulin V-set domain, Immunoglobulin domain,
PUBMED_ID 11501563, 12477932, 15057824, 15342556, 1572651, 16344560, 1690992, 18792801, 19562724, 20116096, 2328001, 2377620, 7566098, 7794280, 7851895,
SMART IGc2, IG,
UP_KEYWORDS Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Polymorphism, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Pregnancy-specific beta-1-glycoprotein 4, chain:Pregnancy-specific beta-1-glycoprotein 8, chain:Putative pregnancy-specific beta-1- glycoprotein 7, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, domain:Ig-like C2-type 3, domain:Ig-like V-type, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide, splice variant,
UP_TISSUE Bone marrow, Donated clones, Fetal liver, Liver, Placenta, Testis, Whole fetus,
5678 pregnancy specific beta-1-glycoprotein 9(PSG9) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000183668,
GOTERM_BP_DIRECT female pregnancy,
GOTERM_CC_DIRECT extracellular region, membrane,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
PFAM Immunoglobulin V-set domain, Immunoglobulin domain,
PUBMED_ID 12477932, 15057824, 15231748, 15489334, 1581354, 15982419, 16169070, 1690992, 1922019, 2322584, 2328001, 2341148, 2346748, 2537311, 26186194, 7794280, 7806221, 7851895,
SMART IGc2, IG,
UP_KEYWORDS Alternative splicing, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Polymorphism, Pregnancy, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Pregnancy-specific beta-1-glycoprotein 9, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, domain:Ig-like C2-type 3, domain:Ig-like V-type, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, short sequence motif:Cell attachment site, signal peptide,
UP_TISSUE Blood, Fetal liver, Leukocyte, Liver, Peripheral blood, Placenta,
10015 programmed cell death 6 interacting protein(PDCD6IP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000170248,
GAD_DISEASE Blood Pressure Determination, Body Fat Distribution, Cholesterol, LDL, Diabetes Mellitus, Type 2, Hemoglobin A, Glycosylated, Hip, longevity, Stroke, Tobacco Use Disorder,
GOTERM_BP_DIRECT cell separation after cytokinesis, apoptotic process, nucleus organization, cell cycle, mitotic metaphase plate congression, regulation of centrosome duplication, protein transport, viral life cycle, multivesicular body assembly, viral budding via host ESCRT complex, ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway, regulation of mitotic spindle assembly, positive regulation of exosomal secretion, regulation of extracellular exosome assembly, positive regulation of extracellular exosome assembly,
GOTERM_CC_DIRECT immunological synapse, cytoplasm, microtubule organizing center, cytosol, focal adhesion, membrane, melanosome, myelin sheath, extracellular exosome, endoplasmic reticulum exit site, extracellular vesicle,
GOTERM_MF_DIRECT protein binding, proteinase activated receptor binding, protein homodimerization activity, calcium-dependent protein binding,
INTERPRO BRO1 domain, ALIX V-shaped domain,
KEGG_PATHWAY Endocytosis,
OFFICIAL_GENE_SYMBOL PDCD6IP,
PFAM BRO1-like domain, ALIX V-shaped domain binding to HIV ,
PUBMED_ID 10200558, 10718198, 10858458, 11683497, 11883939, 12034747, 12360406, 12477932, 12588984, 12771190, 12860994, 12927788, 14505569, 14505570, 14519844, 14583093, 14678797, 14702039, 14739459, 14999017, 15195070, 15231748, 15326289, 15456872, 15489334, 15509564, 15557335, 15849434, 15914539, 16004603, 16169070, 16234236, 16344560, 16470130, 16501490, 16764724, 16957052, 17014699, 17081065, 17082185, 17158451, 17166905, 17174262, 17196169, 17229889, 17250865, 17277784, 17350527, 17350572, 17353931, 17389591, 17428861, 17556548, 17601348, 17673164, 17853893, 17927229, 17982468, 18005675, 18029348, 18032513, 18066081, 18076669, 18256029, 18380665, 18476810, 18477395, 18511562, 18641129, 18644787, 18684393, 18936101, 18940611, 18948538, 19016654, 19020832, 19056867, 19064259, 19099395, 19143627, 19143629, 19143631, 19199708, 19254034, 19282983, 19322201, 19393081, 19403673, 19520058, 19523902, 19531213, 19542561, 19596386, 19639585, 19692479, 19706535, 19738201, 19802344, 19906316, 19912576, 19946888, 20018238, 20156100, 20176808, 20360068, 20379614, 20467437, 20519395, 20562859, 20588296, 20605035, 20616062, 20653365, 20669987, 20670214, 20691033, 20800603, 20929444, 20936779, 20962096, 21129143, 21145461, 21191027, 21248028, 21276792, 21394083, 21423176, 21518163, 21528537, 21543492, 21715492, 21738476, 21762796, 21762798, 21786200, 21889351, 21900206, 21911577, 21988832, 22004035, 22162750, 22421880, 22547407, 22558309, 22586326, 22589738, 22623428, 22641034, 22660413, 22754649, 22761998, 22771033, 22833563, 22844345, 22863883, 22896625, 22939629, 22969426, 22981647, 23027949, 23088713, 23092844, 23201121, 23266279, 23305486, 23376485, 23527201, 23533145, 23602568, 23664863, 23726974, 23777424, 23824909, 23895345, 23924735, 24024966, 24105262, 24107264, 24257210, 24287454, 24457600, 24637612, 24658140, 24711643, 24712823, 24769233, 24834918, 24870593, 24996823, 25066606, 25099357, 25102091, 25118280, 25402006, 25416956, 25451933, 25502766, 25510652, 25534348, 25633977, 25666610, 25693804, 25710462, 25732677, 25749978, 25921289, 26063962, 26139244, 26344197, 26490116, 26496610, 26508657, 26511642, 26549023, 26859355, 26866605, 26929449, 7829101, 8889548, 9647693, 9880530,
SMART SM01041,
UP_KEYWORDS 3D-structure, Acetylation, Alternative splicing, Apoptosis, Cell cycle, Cell division, Complete proteome, Cytoplasm, Cytoskeleton, Direct protein sequencing, Host-virus interaction, Methylation, Phosphoprotein, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Secreted, Transport,
UP_SEQ_FEATURE chain:Programmed cell death 6-interacting protein, compositionally biased region:Pro-rich, domain:BRO1, helix, modified residue, mutagenesis site, region of interest:Essential to promote virus budding, region of interest:Interaction with CEP55, region of interest:Interaction with CHMP4A, CHMP4B and CHMP4C, region of interest:Interaction with EIAV p9, region of interest:Interaction with TSG101, region of interest:Self-association, sequence conflict, sequence variant, strand, turn,
UP_TISSUE Brain, Lymph, Osteosarcoma, Placenta, Testis,
5304 prolactin induced protein(PIP) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000159763,
GAD_DISEASE allergic rhinitis, prostate cancer,
GOTERM_BP_DIRECT detection of chemical stimulus involved in sensory perception of bitter taste, retina homeostasis, regulation of immune system process, proteolysis, positive regulation of gene expression, transmembrane transport, negative regulation of T cell apoptotic process,
GOTERM_CC_DIRECT extracellular region, extracellular space, nucleus, apical plasma membrane, extracellular exosome,
GOTERM_MF_DIRECT glycoprotein binding, actin binding, aspartic-type endopeptidase activity, protein binding, IgG binding, protein dimerization activity,
INTERPRO Seminal vesicle autoantigen, Immunoglobulin E-set,
PFAM Seminal vesicle autoantigen (SVA),
PIR_SUPERFAMILY prolactin-inducible protein /gross cystic disease fluid protein,
PUBMED_ID 10072505, 10713110, 10820003, 11133986, 11992405, 12477932, 12690205, 12755619, 14638438, 15489334, 15632136, 15851553, 16502470, 16740002, 17353931, 18251583, 18930737, 19056867, 19199708, 19217055, 19262752, 1955075, 19615732, 19620839, 19650845, 2013294, 20360068, 21411781, 21630459, 21809344, 21883842, 22209935, 22354994, 22664934, 22720776, 22724438, 22817771, 22952844, 22963676, 23011826, 23085372, 23332923, 23376485, 23533145, 23580065, 23602568, 23663520, 23755096, 24114735, 24244333, 24248522, 24272937, 24862759, 25070172, 25405607, 25425335, 25472539, 25919462, 25963833, 26585492, 2727805, 3667631, 9074931, 9218538, 9724097,
UP_KEYWORDS 3D-structure, Actin-binding, Complete proteome, Direct protein sequencing, Disulfide bond, Glycoprotein, Pyrrolidone carboxylic acid, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE chain:Prolactin-inducible protein, disulfide bond, glycosylation site:N-linked (GlcNAc...), helix, modified residue, signal peptide, strand,
UP_TISSUE Milk, Prostate, Saliva, Seminal vesicle,
389152 proline rich 23C(PRR23C) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000233701,
INTERPRO Uncharacterised protein family UPF0572,
PFAM Protein of unknown function (DUF2476),
PUBMED_ID 16641997,
UP_KEYWORDS Complete proteome, Reference proteome,
UP_SEQ_FEATURE chain:Proline-rich protein 23A, compositionally biased region:Pro-rich,
9858 protein phosphatase 1 regulatory subunit 26(PPP1R26) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000196422,
GOTERM_BP_DIRECT negative regulation of phosphatase activity,
GOTERM_CC_DIRECT nucleoplasm, nucleolus,
GOTERM_MF_DIRECT protein phosphatase inhibitor activity, protein binding, phosphatase binding,
INTERPRO Protein phosphatase 1 regulatory subunit 26,
PUBMED_ID 12421765, 12477932, 14702039, 15231748, 16053918, 18029348, 19389623, 22658674, 26442585, 9734811,
UP_KEYWORDS Complete proteome, Nucleus, Phosphoprotein, Polymorphism, Protein phosphatase inhibitor, Reference proteome,
UP_SEQ_FEATURE chain:Protein KIAA0649, sequence conflict, sequence variant,
UP_TISSUE Brain, Colon,
9701 protein phosphatase 6 regulatory subunit 2(PPP6R2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000100239,
GOTERM_CC_DIRECT cytoplasm, intracellular membrane-bounded organelle,
GOTERM_MF_DIRECT protein binding,
INTERPRO SIT4 phosphatase-associated protein family, Armadillo-type fold,
PFAM SIT4 phosphatase-associated protein,
PUBMED_ID 10591208, 12477932, 14702039, 14743216, 16713569, 16769727, 18029348, 18186651, 19596235, 19615732, 19621075, 20065038, 21187329, 21832049, 23443559, 24255178, 24927181, 25921289, 26186194, 26496610, 26673895, 9734811,
UP_KEYWORDS Alternative splicing, Complete proteome, Cytoplasm, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Serine/threonine-protein phosphatase 6 regulatory subunit 2, compositionally biased region:Poly-Ser, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Placenta,
56141 protocadherin alpha 7(PCDHA7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204963,
GOTERM_BP_DIRECT cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, nervous system development, cell-cell recognition,
GOTERM_CC_DIRECT integral component of plasma membrane,
GOTERM_MF_DIRECT calcium ion binding, identical protein binding,
INTERPRO Cadherin, Cadherin, N-terminal, Cadherin-like, Cadherin conserved site,
OFFICIAL_GENE_SYMBOL PCDHA7,
PFAM Cadherin domain, Cadherin-like,
PUBMED_ID 10380929, 10662547, 10716726, 10817752, 10835267, 11230163, 15372022, 17474147, 21832049, 22589738,
SMART CA,
UP_KEYWORDS Alternative splicing, Calcium, Cell adhesion, Cell membrane, Complete proteome, Glycoprotein, Membrane, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Protocadherin alpha-7, compositionally biased region:Poly-Lys, domain:Cadherin 1, domain:Cadherin 2, domain:Cadherin 3, domain:Cadherin 4, domain:Cadherin 5, domain:Cadherin 6, glycosylation site:N-linked (GlcNAc...), region of interest:5 X 4 AA repeats of P-X-X-P, repeat:PXXP 1, repeat:PXXP 2, repeat:PXXP 3, repeat:PXXP 4, repeat:PXXP 5, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain,
56140 protocadherin alpha 8(PCDHA8) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000204962,
GOTERM_BP_DIRECT cell adhesion, homophilic cell adhesion via plasma membrane adhesion molecules, nervous system development,
GOTERM_CC_DIRECT plasma membrane, integral component of plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO Cadherin, Cadherin, N-terminal, Cadherin-like, Cadherin conserved site,
OFFICIAL_GENE_SYMBOL PCDHA8,
PFAM Cadherin domain, Cadherin-like,
PUBMED_ID 10380929, 10662547, 10716726, 10817752, 10835267, 11230163, 12477932, 15372022, 17474147, 22589738,
SMART CA,
UP_KEYWORDS Alternative splicing, Calcium, Cell adhesion, Cell membrane, Complete proteome, Glycoprotein, Membrane, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Protocadherin alpha-6, chain:Protocadherin alpha-8, compositionally biased region:Poly-Lys, domain:Cadherin 1, domain:Cadherin 2, domain:Cadherin 3, domain:Cadherin 4, domain:Cadherin 5, domain:Cadherin 6, glycosylation site:N-linked (GlcNAc...), region of interest:4 X 4 AA repeats of P-X-X-P, region of interest:5 X 4 AA repeats of P-X-X-P, repeat:PXXP 1, repeat:PXXP 2, repeat:PXXP 3, repeat:PXXP 4, repeat:PXXP 5, sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain,
56101 protocadherin gamma subfamily B, 5(PCDHGB5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000276547,
GOTERM_BP_DIRECT homophilic cell adhesion via plasma membrane adhesion molecules,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane, extracellular exosome,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO Cadherin, Cadherin, N-terminal, Cadherin-like, Cadherin conserved site,
OFFICIAL_GENE_SYMBOL PCDHGB5,
PFAM Cadherin domain, Cadherin-like,
PUBMED_ID 10380929, 10716726, 10817752, 10835267, 11230163, 12477932, 19199708,
SMART CA,
UP_KEYWORDS Alternative splicing, Calcium, Cell adhesion, Cell membrane, Complete proteome, Glycoprotein, Membrane, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Protocadherin gamma-B5, domain:Cadherin 1, domain:Cadherin 2, domain:Cadherin 3, domain:Cadherin 4, domain:Cadherin 5, domain:Cadherin 6, glycosylation site:N-linked (GlcNAc...), sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain,
728194 radial spoke head 10 homolog B2(RSPH10B2) Related Genes Homo sapiens
COG_ONTOLOGY Function unknown,
ENSEMBL_GENE_ID ENSG00000169402,
INTERPRO MORN motif,
PFAM MORN repeat,
PUBMED_ID 12477932, 14702039, 21832049, 26186194,
SMART MORN,
UP_KEYWORDS Alternative splicing, Coiled coil, Complete proteome, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Radial spoke head 10 homolog B, chain:Radial spoke head 10 homolog B2, repeat:MORN 1, repeat:MORN 10, repeat:MORN 2, repeat:MORN 3, repeat:MORN 4, repeat:MORN 5, repeat:MORN 6, repeat:MORN 7, repeat:MORN 8, repeat:MORN 9, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Cervix adenocarcinoma, Testis,
130132 raftlin family member 2(RFTN2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000162944,
GAD_DISEASE Body Fat Distribution,
GOTERM_BP_DIRECT protein transport into membrane raft, dsRNA transport, response to exogenous dsRNA, antigen receptor-mediated signaling pathway,
GOTERM_CC_DIRECT cytoplasm, plasma membrane, membrane raft,
PFAM Raftlin,
PUBMED_ID 12477932, 14702039, 15489334, 15815621, 23128233, 25056061,
UP_KEYWORDS Cell membrane, Complete proteome, Lipoprotein, Membrane, Myristate, Palmitate, Phosphoprotein, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Raftlin-2, lipid moiety-binding region:N-myristoyl glycine, lipid moiety-binding region:S-palmitoyl cysteine, modified residue, sequence conflict,
UP_TISSUE Brain,
6239 ras responsive element binding protein 1(RREB1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000124782,
GAD_DISEASE macular degeneration, Parkinson Disease, Socioeconomic Factors, Tobacco Use Disorder,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, regulation of transcription, DNA-templated, transcription from RNA polymerase II promoter, Ras protein signal transduction, multicellular organism development, positive regulation of epithelial cell migration, positive regulation of mammary gland epithelial cell proliferation, positive regulation of transcription, DNA-templated, positive regulation of substrate adhesion-dependent cell spreading, positive regulation of wound healing, spreading of epidermal cells, positive regulation of lamellipodium morphogenesis,
GOTERM_CC_DIRECT nucleus, nucleoplasm, nucleolus, cytoplasm, nuclear body, nuclear speck, extracellular exosome,
GOTERM_MF_DIRECT RNA polymerase II core promoter sequence-specific DNA binding, nucleic acid binding, transcription factor activity, sequence-specific DNA binding, metal ion binding,
INTERPRO Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, C2H2-type zinc finger,
PUBMED_ID 10390538, 12477932, 12482979, 12700664, 12700765, 14702039, 15067362, 15302935, 15342556, 16140033, 17550981, 17967884, 18394891, 18854154, 19056867, 19558368, 19802870, 19890057, 20133935, 20379614, 20385826, 20884846, 21159816, 21258344, 21360563, 21613827, 21703425, 21792086, 21833088, 22427155, 22581228, 22589738, 22751122, 23247143, 23263486, 23752268, 23966867, 24104479, 24348900, 24418439, 24509480, 25027322, 25050557, 26186194, 26496610, 26608785, 8816445, 9305772, 9367691,
SMART ZnF_C2H2,
UP_KEYWORDS Activator, Alternative splicing, Complete proteome, DNA-binding, Isopeptide bond, Metal-binding, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Repressor, Transcription, Transcription regulation, Ubl conjugation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Ras-responsive element-binding protein 1, compositionally biased region:Poly-Pro, compositionally biased region:Pro-rich, modified residue, sequence conflict, sequence variant, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11, zinc finger region:C2H2-type 12, zinc finger region:C2H2-type 13, zinc finger region:C2H2-type 14, zinc finger region:C2H2-type 15, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Brain, Epithelium, Liver, Thyroid carcinoma,
285093 receptor transporter protein 5 (putative)(RTP5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188011,
GAD_DISEASE Tunica Media,
GOTERM_BP_DIRECT detection of chemical stimulus involved in sensory perception of bitter taste, protein targeting to membrane, protein insertion into membrane,
GOTERM_CC_DIRECT intracellular, cell surface, integral component of membrane,
GOTERM_MF_DIRECT protein binding, olfactory receptor binding,
INTERPRO Receptor-transporting protein/CXXC-type zinc finger protein 11, CXXC-type zinc finger protein 11, Zinc-binding domain,
PFAM Zinc-binding domain,
PUBMED_ID 12477932, 14702039, 25416956,
SMART SM01328,
UP_KEYWORDS Complete proteome, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Uncharacterized protein C2orf85, sequence conflict, sequence variant, transmembrane region,
UP_TISSUE Amygdala, Brain,
9699 regulating synaptic membrane exocytosis 2(RIMS2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000176406,
GAD_DISEASE Cholesterol, LDL, Forced Expiratory Volume, Forced Vital Capacity, Glucose, Heroin Dependence, smoking cessation, Tobacco Use Disorder,
GOTERM_BP_DIRECT intracellular protein transport, positive regulation of gene expression, calcium ion regulated exocytosis, regulation of exocytosis, cAMP-mediated signaling, insulin secretion, regulation of membrane potential, calcium ion-regulated exocytosis of neurotransmitter, spontaneous neurotransmitter secretion, positive regulation of inhibitory postsynaptic potential, positive regulation of dendrite extension, regulation of synaptic vesicle exocytosis, positive regulation of excitatory postsynaptic potential,
GOTERM_CC_DIRECT intracellular, cell junction, presynaptic membrane, presynaptic active zone, extracellular exosome,
GOTERM_MF_DIRECT protein binding, Rab GTPase binding, ion channel binding, metal ion binding,
INTERPRO C2 calcium-dependent membrane targeting, PDZ domain, Rab-binding domain, Zinc finger, FYVE/PHD-type, Zinc finger, RING/FYVE/PHD-type, Zinc finger, FYVE-related,
KEGG_PATHWAY Insulin secretion,
PFAM C2 domain, PDZ domain (Also known as DHR or GLGF), FYVE-type zinc finger,
PUBMED_ID 10707984, 11598134, 12477932, 12578829, 12620390, 12871946, 14660679, 15146197, 15217342, 15342556, 15489334, 16192289, 17081983, 17474147, 18490030, 18570454, 19199833, 20363327, 20379614, 20467438, 20520587, 21150319, 22248876, 23503679, 23958962, 23999003, 24623842, 8619474, 9110174, 9872452,
SMART PDZ, C2,
UP_KEYWORDS 3D-structure, Alternative splicing, Cell junction, Cell membrane, Coiled coil, Complete proteome, Differentiation, Membrane, Metal-binding, Phosphoprotein, Proteomics identification, Reference proteome, Repeat, Synapse, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Regulating synaptic membrane exocytosis protein 2, domain:C2 1, domain:C2 2, domain:PDZ, domain:RabBD, helix, modified residue, sequence conflict, splice variant, strand, turn, zinc finger region:FYVE-type,
UP_TISSUE Brain, Epithelium, Hypothalamus, Retina,
5954 reticulocalbin 1(RCN1) Related Genes Homo sapiens
COG_ONTOLOGY Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only,
ENSEMBL_GENE_ID ENSG00000049449,
GAD_DISEASE Depressive Disorder, Major, Echocardiography, Tuberculosis,
GOTERM_BP_DIRECT in utero embryonic development, camera-type eye development,
GOTERM_CC_DIRECT endoplasmic reticulum, endoplasmic reticulum lumen,
GOTERM_MF_DIRECT calcium ion binding, protein binding,
INTERPRO EF-hand domain, EF-hand-like domain, EF-Hand 1, calcium-binding site, Reticulocalbin-1,
PFAM EF hand,
PUBMED_ID 12477932, 14702039, 15342556, 15489334, 16554811, 16713569, 17110338, 18029348, 18457437, 18561328, 18688696, 19474196, 19710015, 20360068, 20724591, 21145461, 21150319, 21272564, 21988832, 22190034, 22658674, 22863883, 22939629, 23085658, 23319000, 23438482, 23443559, 23602568, 23752268, 23916412, 24189400, 24451493, 24457600, 24711643, 25036637, 25242635, 25852190, 26124079, 26186194, 26344197, 26496610, 26638075, 27468573, 8416973, 8586628, 9192846,
SMART EFh,
UP_KEYWORDS Alternative splicing, Calcium, Complete proteome, Endoplasmic reticulum, Glycoprotein, Metal-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Signal,
UP_SEQ_FEATURE calcium-binding region:1, calcium-binding region:2; possibly ancestral, calcium-binding region:3, calcium-binding region:4, calcium-binding region:5, calcium-binding region:6; possibly ancestral, chain:Reticulocalbin-1, domain:EF-hand 1, domain:EF-hand 2, domain:EF-hand 3, domain:EF-hand 4, domain:EF-hand 5, domain:EF-hand 6, glycosylation site:N-linked (GlcNAc...), modified residue, sequence variant, short sequence motif:Prevents secretion from ER, signal peptide,
UP_TISSUE Liver, Ovary,
94137 retinitis pigmentosa 1 like 1(RP1L1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000183638,
GOTERM_BP_DIRECT visual perception, axoneme assembly, intracellular signal transduction, photoreceptor cell development, photoreceptor cell maintenance, retina development in camera-type eye,
GOTERM_CC_DIRECT photoreceptor outer segment, cytoplasm, microtubule, axoneme, photoreceptor connecting cilium, extracellular exosome,
INTERPRO Doublecortin domain,
OMIM_DISEASE Occult macular dystrophy,
PFAM Doublecortin,
PUBMED_ID 12634863, 12724644, 14702039, 16869982, 17655910, 18716609, 19657028, 20236041, 20826268, 22466457, 22504327, 23229695, 23251661, 23281133, 23376485, 23619761, 23745001, 24838559, 25692141, 25969425,
SMART DCX,
UP_KEYWORDS Alternative splicing, Cell projection, Cilium, Cilium biogenesis/degradation, Coiled coil, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Microtubule, Polymorphism, Proteomics identification, Reference proteome, Repeat, Sensory transduction, Vision,
UP_SEQ_FEATURE chain:Retinitis pigmentosa 1-like 1 protein, domain:Doublecortin 1, domain:Doublecortin 2, region of interest:25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE], region of interest:8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K, repeat:1-1; approximate, repeat:1-2; approximate, repeat:1-3, repeat:1-4, repeat:1-5, repeat:1-6, repeat:1-7, repeat:1-8, repeat:2-1, repeat:2-10, repeat:2-11, repeat:2-12; approximate, repeat:2-13, repeat:2-14, repeat:2-15; approximate, repeat:2-16, repeat:2-17, repeat:2-18, repeat:2-19, repeat:2-2, repeat:2-20, repeat:2-21, repeat:2-22, repeat:2-23, repeat:2-24, repeat:2-25, repeat:2-3, repeat:2-4; approximate, repeat:2-5, repeat:2-6; approximate, repeat:2-7, repeat:2-8; approximate, repeat:2-9; approximate, sequence conflict, sequence variant, splice variant,
UP_TISSUE Colon, Retina,
388015 retrotransposon-like 1(RTL1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000254656,
GAD_DISEASE Diabetes Mellitus, Type 2,
GOTERM_BP_DIRECT multicellular organism development,
GOTERM_CC_DIRECT integral component of membrane,
INTERPRO Aspartic peptidase,
PUBMED_ID 12477932, 12508121, 12796779, 15854907, 16093683, 16155747, 18176563, 19966805, 23593033, 24389010, 25921289,
UP_KEYWORDS Complete proteome, Developmental protein, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix,
UP_TISSUE Testicle,
138065 ring finger protein 183(RNF183) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000165188,
GOTERM_CC_DIRECT integral component of membrane,
GOTERM_MF_DIRECT protein binding, zinc ion binding,
INTERPRO Zinc finger, RING-type, Zinc finger, RING/FYVE/PHD-type, Zinc finger, RING-type, conserved site,
PFAM Ring finger domain,
PUBMED_ID 12477932, 14702039, 15489334, 16189514, 21832049, 25416956, 26818663,
SMART RING,
UP_KEYWORDS Complete proteome, Membrane, Metal-binding, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:RING finger protein 183, sequence variant, transmembrane region, zinc finger region:RING-type,
UP_TISSUE Lung,
91607 schlafen family member 11(SLFN11) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000172716,
GOTERM_BP_DIRECT defense response to virus, negative regulation of G1/S transition of mitotic cell cycle,
GOTERM_CC_DIRECT nucleus, nucleoplasm, cytoplasm, aggresome,
GOTERM_MF_DIRECT tRNA binding, ATP binding,
INTERPRO ATPase, AAA-4, Domain of unknown function DUF2075, P-loop containing nucleoside triphosphate hydrolase,
PFAM Divergent AAA domain, Uncharacterized conserved protein (DUF2075),
PUBMED_ID 11076863, 11230166, 11256614, 12477932, 14702039, 15342556, 15489334, 15489336, 16381901, 17643375, 22678362, 22927417, 22939624, 22990118, 23000900, 23022380, 23570387, 23667531, 23891004, 24332808, 24797263, 25779942, 26525741, 26549023, 26638075, 9846487,
UP_KEYWORDS Antiviral defense, ATP-binding, Complete proteome, Immunity, Nucleotide-binding, Nucleus, Polymorphism, Proteomics identification, Reference proteome, RNA-binding, tRNA-binding,
UP_SEQ_FEATURE chain:Schlafen family member 11, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant,
UP_TISSUE Skeletal muscle, Skin, Spleen,
146857 schlafen family member 13(SLFN13) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000154760,
GOTERM_CC_DIRECT intracellular,
GOTERM_MF_DIRECT ATP binding,
INTERPRO ATPase, AAA-4, Domain of unknown function DUF2075, P-loop containing nucleoside triphosphate hydrolase,
PFAM Divergent AAA domain, Uncharacterized conserved protein (DUF2075),
PUBMED_ID 11076863, 11230166, 11256614, 12477932, 14702039, 15489336, 16344560, 16381901, 9846487,
UP_KEYWORDS Alternative splicing, ATP-binding, Complete proteome, Nucleotide-binding, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Schlafen family member 13, nucleotide phosphate-binding region:ATP, sequence variant, splice variant,
UP_TISSUE Cervix, Stomach,
200172 schlafen like 1(SLFNL1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000171790,
GOTERM_MF_DIRECT ATP binding,
INTERPRO ATPase, AAA-4,
PFAM Divergent AAA domain,
PUBMED_ID 12477932, 14702039, 15489334, 16344560, 16710414, 21832049,
UP_KEYWORDS Alternative splicing, ATP-binding, Coiled coil, Complete proteome, Nucleotide-binding, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Schlafen-like protein 1, nucleotide phosphate-binding region:ATP, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Lung, Testis,
147199 secretoglobin family 1C member 1(SCGB1C1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000188076,
GOTERM_CC_DIRECT extracellular region,
INTERPRO Secretoglobin,
PFAM Uteroglobin family,
PUBMED_ID 11076863, 12406855, 12477932, 15489334, 15489336, 16381901, 1915264, 22155607, 24026423, 26204469,
UP_KEYWORDS Complete proteome, Polymorphism, Reference proteome, Secreted, Signal,
UP_SEQ_FEATURE chain:Secretoglobin family 1C member 1, modified residue, signal peptide,
6406 semenogelin I(SEMG1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000124233,
GOTERM_BP_DIRECT insemination, antibacterial humoral response, cellular protein metabolic process, coagulation, protein heterooligomerization, negative regulation of calcium ion import, positive regulation of serine-type endopeptidase activity, negative regulation of sperm motility,
GOTERM_CC_DIRECT extracellular region, extracellular space, nucleus, protein complex, extracellular exosome,
GOTERM_MF_DIRECT protein binding, metal ion binding,
INTERPRO Semenogelin,
PFAM Semenogelin,
PUBMED_ID 10411640, 10412373, 11027412, 11780052, 11784334, 11870067, 12200457, 12399526, 12477932, 12771235, 14562960, 14581514, 14613901, 14629036, 1517240, 15489334, 15563730, 15590901, 15930278, 15962837, 16344560, 16582407, 16713569, 17567961, 17624925, 17680810, 17683036, 18314226, 18468680, 18482984, 18714013, 19089943, 19241194, 19380743, 19889947, 20378931, 21319273, 21525168, 21557275, 21630459, 22075473, 22177559, 22617231, 22699487, 23085372, 23289976, 23533145, 23658844, 24312623, 24811874, 25027395, 25631074, 26186194, 2757795, 2912989, 3889920, 3972122, 6422553, 6484484, 6698208, 8444163, 8654389, 8665951, 8665956, 8833737, 9092810, 9523691,
UP_KEYWORDS Alternative splicing, Complete proteome, Direct protein sequencing, Disulfide bond, Polymorphism, Pyrrolidone carboxylic acid, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Semenogelin-1, disulfide bond, modified residue, peptide:Alpha-inhibin-31, peptide:Alpha-inhibin-92, peptide:Seminal basic protein, repeat:42 AA repeat 1, repeat:42 AA repeat 2, repeat:42 AA repeat 3, repeat:58 AA repeat 1, repeat:58 AA repeat 2, sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Blood, Prostate,
54938 seryl-tRNA synthetase 2, mitochondrial(SARS2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000104835,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT tRNA aminoacylation for protein translation, seryl-tRNA aminoacylation, selenocysteinyl-tRNA(Sec) biosynthetic process,
GOTERM_CC_DIRECT cytoplasm, mitochondrion, mitochondrial matrix,
GOTERM_MF_DIRECT serine-tRNA ligase activity, ATP binding, poly(A) RNA binding,
INTERPRO Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain, Serine-tRNA ligase, type1, Aminoacyl-tRNA synthetase, class II, tRNA-binding arm, Serine-tRNA synthetase, type1, N-terminal,
KEGG_PATHWAY Aminoacyl-tRNA biosynthesis,
OMIM_DISEASE Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,
PFAM tRNA synthetase class II core domain (G, H, P, S and T), Seryl-tRNA synthetase N-terminal domain,
PIR_SUPERFAMILY serine-tRNA ligase,
PUBMED_ID 10764807, 11317363, 11331419, 12477932, 14702039, 15109557, 15489334, 16133542, 17353931, 18755224, 19439209, 19615732, 20186120, 20348541, 20877624, 21145461, 22145905, 22681889, 22939629, 25582440, 25921289, 25968158, 26186194, 26344197, 26549023, 27499296,
UP_KEYWORDS Acetylation, Alternative splicing, Aminoacyl-tRNA synthetase, ATP-binding, Coiled coil, Complete proteome, Ligase, Mitochondrion, Nucleotide-binding, Polymorphism, Protein biosynthesis, Proteomics identification, Reference proteome, Transit peptide,
UP_SEQ_FEATURE binding site:ATP; via carbonyl oxygen and amide nitrogen, binding site:Serine, chain:Seryl-tRNA synthetase, mitochondrial, modified residue, nucleotide phosphate-binding region:ATP, region of interest:Serine binding, sequence variant, transit peptide:Mitochondrion,
UP_TISSUE Brain, Eye,
89858 sialic acid binding Ig like lectin 12 (gene/pseudogene)(SIGLEC12) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000254521,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cell adhesion,
GOTERM_CC_DIRECT integral component of membrane,
GOTERM_MF_DIRECT carbohydrate binding,
INTERPRO Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Immunoglobulin V-set, Immunoglobulin-like fold,
PFAM Immunoglobulin V-set domain,
PUBMED_ID 11328818, 11409877, 11546777, 12477932, 12975309, 14702039, 15489334, 16344560, 19913121, 20237496, 20628086, 21555517, 23690342, 26186194, 8125298,
SMART IGc2, IG,
UP_KEYWORDS Alternative splicing, Cell adhesion, Complete proteome, Disulfide bond, Glycoprotein, Immunoglobulin domain, Lectin, Membrane, Phosphoprotein, Polymorphism, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Sialic acid-binding Ig-like lectin 12, disulfide bond, domain:Ig-like C2-type 1, domain:Ig-like C2-type 2, domain:Ig-like V-type 1, domain:Ig-like V-type 2, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, short sequence motif:ITIM motif, short sequence motif:SLAM-like motif, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Blood, Bone marrow,
6773 signal transducer and activator of transcription 2(STAT2) Related Genes Homo sapiens
BBID 48.mice_minus_JAKs_and_STATs,
BIOCARTA IFN alpha signaling pathway,
ENSEMBL_GENE_ID ENSG00000170581,
GAD_DISEASE Asthma|, Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma, Dengue Hemorrhagic Fever, Hepatitis C, Chronic|Liver Cirrhosis, Hepatitis C, Chronic|Multiple Sclerosis, Hepatitis C, Chronic|Neutropenia|Thrombocytopenia, Hepatitis C|Remission, Spontaneous, macular degeneration, Meningeal Neoplasms|meningioma, Psoriasis, thyroid cancer, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT regulation of protein phosphorylation, transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter, JAK-STAT cascade, defense response to virus, type I interferon signaling pathway, regulation of type I interferon-mediated signaling pathway, regulation of mitochondrial fission,
GOTERM_CC_DIRECT nucleus, nucleoplasm, cytoplasm, cytosol, plasma membrane,
GOTERM_MF_DIRECT DNA binding, transcription factor activity, sequence-specific DNA binding, signal transducer activity, protein binding, identical protein binding,
INTERPRO SH2 domain, STAT transcription factor, core, p53-like transcription factor, DNA-binding, EF-hand-like domain, STAT transcription factor, DNA-binding, subdomain, STAT transcription factor, protein interaction, STAT transcription factor, all-alpha, STAT transcription factor, DNA-binding, STAT transcription factor, coiled coil, Signal transducer and activation of transcription 2, C-terminal,
KEGG_PATHWAY Chemokine signaling pathway, Osteoclast differentiation, Jak-STAT signaling pathway, Hepatitis C, Hepatitis B, Measles, Influenza A, Herpes simplex infection,
OMIM_DISEASE Immunodeficiency 44,
PFAM SH2 domain, STAT protein, all-alpha domain, STAT protein, DNA binding domain, STAT protein, protein interaction domain, Signal transducer and activator of transcription 2 C terminal,
PUBMED_ID 10446176, 10464260, 10490982, 10506573, 10702714, 11150296, 11564163, 11694501, 11786546, 11804954, 11932384, 12039028, 12048190, 12050355, 12167251, 12220192, 12244326, 12388709, 12477932, 12509459, 12610111, 12777975, 12804771, 14557668, 14645718, 14702039, 14722125, 1502204, 15154850, 15165826, 15175343, 15221897, 15356134, 15467722, 15489334, 15650219, 15668228, 15717316, 15825084, 16227264, 16501077, 16689942, 16918696, 16978698, 17351669, 17442890, 17538964, 17923090, 18029348, 18338947, 18370868, 18456457, 18579593, 18678383, 18701593, 18771758, 18796709, 19007958, 19159017, 19169254, 19279106, 19322201, 19351818, 19423540, 19434718, 19561067, 19730683, 19754307, 19913121, 20068068, 20331378, 20403236, 20406964, 20428775, 20438785, 20533260, 20588308, 20628086, 20881960, 20937132, 20953190, 21075352, 21268015, 21354905, 21399658, 21498520, 21795355, 21886773, 21903422, 21988832, 22020285, 22022391, 22238643, 22426484, 22523757, 22634037, 22859983, 22883142, 22939624, 23139419, 23391734, 23456168, 23555265, 23878400, 24065129, 24144296, 24480984, 24658140, 24814927, 25008924, 25293394, 25402006, 25429064, 25529283, 25773664, 25812002, 25814554, 25921106, 25965795, 26122121, 26186194, 26335850, 26397446, 26496610, 26673895, 26897526, 26945968, 7559568, 7746328, 7885841, 8601453, 8605876, 8605877, 8621447, 8848048, 8943351, 9020188, 9121453, 9242679, 9677371, 9724754, 9804758,
SMART SH2, SM00964,
UP_KEYWORDS 3D-structure, Activator, Alternative splicing, Antiviral defense, Complete proteome, Cytoplasm, Direct protein sequencing, DNA-binding, Host-virus interaction, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, SH2 domain, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Signal transducer and activator of transcription 2, domain:SH2, helix, modified residue, mutagenesis site, sequence variant, splice variant, turn,
UP_TISSUE Human small intestine, Lung,
6707 small proline rich protein 3(SPRR3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000163209,
GOTERM_BP_DIRECT epidermis development, peptide cross-linking, keratinocyte differentiation, keratinization, wound healing,
GOTERM_CC_DIRECT cornified envelope, cytoplasm, extracellular exosome,
GOTERM_MF_DIRECT structural molecule activity, protein binding,
INTERPRO Small proline-rich protein/late cornified envelope protein,
PUBMED_ID 10510474, 10737800, 11230159, 11279051, 11443109, 12036303, 12477932, 12786819, 14748073, 14761935, 15221970, 15232223, 15489334, 16344560, 16710414, 17935133, 18643845, 18832573, 19056867, 19199708, 19211270, 20379613, 20599699, 21490620, 21777580, 22076481, 23376485, 23820115, 26186194, 7829876, 8018055, 8325635, 8809402, 8999895, 9724607, 9889002,
UP_KEYWORDS Acetylation, Complete proteome, Cytoplasm, Direct protein sequencing, Keratinization, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Small proline-rich protein 3, region of interest:14 X 8 AA approximate tandem repeats, repeat:1, repeat:10, repeat:11, repeat:12, repeat:13, repeat:14, repeat:2, repeat:3, repeat:4, repeat:5, repeat:6, repeat:7, repeat:8, repeat:9, sequence conflict, sequence variant,
UP_TISSUE Keratinocyte, Peripheral blood, Skeletal muscle,
6339 sodium channel epithelial 1 delta subunit(SCNN1D) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000162572,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT sodium ion transport, ion transmembrane transport, sodium ion transmembrane transport, response to stimulus, sensory perception of taste,
GOTERM_CC_DIRECT plasma membrane, actin cytoskeleton, membrane, integral component of membrane,
GOTERM_MF_DIRECT sodium channel activity, protein binding, ligand-gated sodium channel activity,
INTERPRO Na+ channel, amiloride-sensitive, Epithelial sodium channel, Na+ channel, amiloride-sensitive, conserved site,
PFAM Amiloride-sensitive sodium channel,
PUBMED_ID 12477932, 14645214, 14702039, 14726523, 15084585, 15308635, 15489334, 16423824, 16710414, 16930535, 17472699, 18073141, 18298571, 18951889, 19359370, 19520916, 19717556, 19812697, 19913121, 20628086, 20631247, 21307123, 21419751, 21562313, 21741370, 22159085, 22505667, 23589227, 25677639, 26772908, 7499195, 8661065, 8889548,
UP_KEYWORDS Alternative splicing, Cell membrane, Complete proteome, Glycoprotein, Ion channel, Ion transport, Membrane, Polymorphism, Reference proteome, Sensory transduction, Sodium, Sodium channel, Sodium transport, Taste, Transmembrane, Transmembrane helix, Transport,
UP_SEQ_FEATURE chain:Amiloride-sensitive sodium channel subunit delta, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain, Hippocampus, Lung, Nasal epithelium, Testis,
63910 solute carrier family 17 member 9(SLC17A9) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000101194,
GAD_DISEASE Glucose,
GOTERM_BP_DIRECT anion transport, exocytosis, transmembrane transport, regulation of mitophagy, positive regulation of protein targeting to mitochondrion,
GOTERM_CC_DIRECT integral component of membrane,
GOTERM_MF_DIRECT transporter activity, transmembrane transporter activity,
INTERPRO Sugar transporter, conserved site, Major facilitator superfamily, Major facilitator superfamily domain,
OMIM_DISEASE Porokeratosis 8, disseminated superficial actinic type,
PFAM Major Facilitator Superfamily,
PUBMED_ID 11780052, 12477932, 12693554, 14702039, 15489334, 16344560, 18375752, 20382737, 21613220, 21988832, 23467297, 24292772, 24912190, 24962569, 25180256,
UP_KEYWORDS Alternative splicing, Complete proteome, Disease mutation, Exocytosis, Membrane, Polymorphism, Reference proteome, Transmembrane, Transmembrane helix, Transport,
UP_SEQ_FEATURE chain:Solute carrier family 17 member 9, sequence conflict, sequence variant, splice variant, transmembrane region,
UP_TISSUE Kidney, Neonatal skin, Spleen,
29985 solute carrier family 39 member 3(SLC39A3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000141873,
GAD_DISEASE Bipolar Disorder,
GOTERM_BP_DIRECT cell morphogenesis, in utero embryonic development, T cell homeostasis, embryonic cranial skeleton morphogenesis, limb development, zinc II ion transmembrane transport,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT zinc ion transmembrane transporter activity, metal ion transmembrane transporter activity,
INTERPRO Zinc/iron permease,
PFAM ZIP Zinc transporter,
PUBMED_ID 10681536, 12477932, 14525987, 14702039, 15054103, 17550612, 18279033, 19308021, 21053094, 21613827, 22427155, 26186194, 8619474, 9110174,
UP_KEYWORDS Alternative splicing, Complete proteome, Ion transport, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transmembrane, Transmembrane helix, Transport, Zinc, Zinc transport,
UP_SEQ_FEATURE chain:Zinc transporter ZIP3, modified residue, sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Duodenum, Lymph, Placenta,
51332 spectrin beta, non-erythrocytic 5(SPTBN5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000137877,
GAD_DISEASE Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage, hypertension, Tobacco Use Disorder,
GOTERM_BP_DIRECT MAPK cascade, ER to Golgi vesicle-mediated transport, Golgi organization, lysosomal transport, axon guidance, actin cytoskeleton organization, positive regulation of GTPase activity, protein homooligomerization, actin filament capping,
GOTERM_CC_DIRECT cytoplasm, cytosol, spectrin, membrane, photoreceptor connecting cilium, extracellular exosome, photoreceptor disc membrane,
GOTERM_MF_DIRECT actin binding, Ras guanyl-nucleotide exchange factor activity, kinesin binding, spectrin binding, myosin tail binding, dynactin binding, protein self-association, dynein intermediate chain binding,
INTERPRO Actinin-type, actin-binding, conserved site, Calponin homology domain, Pleckstrin homology domain, Spectrin repeat, Pleckstrin homology-like domain, Spectrin/alpha-actinin,
PFAM Calponin homology (CH) domain, Spectrin repeat,
PUBMED_ID 10764729, 12119179, 18048348, 19490893, 19851296, 20043139, 20198315, 20379614, 23376485, 23704327, 26344197, 26460568, 26638075, 8493579,
SMART CH, SPEC, PH,
UP_KEYWORDS Actin capping, Actin-binding, Complete proteome, Cytoplasm, Cytoskeleton, Polymorphism, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Spectrin beta chain, brain 4, domain:Actin-binding, domain:CH 1, domain:CH 2, domain:PH, repeat:Spectrin 1, repeat:Spectrin 10, repeat:Spectrin 11, repeat:Spectrin 12, repeat:Spectrin 13, repeat:Spectrin 14, repeat:Spectrin 15, repeat:Spectrin 16, repeat:Spectrin 17, repeat:Spectrin 18, repeat:Spectrin 19, repeat:Spectrin 2, repeat:Spectrin 20, repeat:Spectrin 21, repeat:Spectrin 22, repeat:Spectrin 23, repeat:Spectrin 24, repeat:Spectrin 25, repeat:Spectrin 26, repeat:Spectrin 27, repeat:Spectrin 28, repeat:Spectrin 29, repeat:Spectrin 3, repeat:Spectrin 30, repeat:Spectrin 31, repeat:Spectrin 4, repeat:Spectrin 5, repeat:Spectrin 6, repeat:Spectrin 7, repeat:Spectrin 8, repeat:Spectrin 9, sequence variant,
UP_TISSUE Cerebellum, Retina, Spinal cord,
79029 spermatogenesis associated 5 like 1(SPATA5L1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000171763,
GAD_DISEASE Creatinine, renal function and chronic kidney disease,
GOTERM_CC_DIRECT cytoplasm,
GOTERM_MF_DIRECT ATP binding,
INTERPRO AAA+ ATPase domain, ATPase, AAA-type, core, ATPase, AAA-type, conserved site, P-loop containing nucleoside triphosphate hydrolase,
PFAM ATPase family associated with various cellular activities (AAA),
PUBMED_ID 12477932, 14702039, 19430482, 20383146, 20467437, 21145461, 22658674, 23535967, 25010285, 25515538, 25921289, 26186194, 26496610, 26673895, 8125298,
SMART AAA,
UP_KEYWORDS Acetylation, Alternative splicing, ATP-binding, Complete proteome, Cytoplasm, Nucleotide-binding, Polymorphism, Proteomics identification, Reference proteome, Repeat,
UP_SEQ_FEATURE chain:Spermatogenesis-associated protein 5-like protein 1, nucleotide phosphate-binding region:ATP 1, nucleotide phosphate-binding region:ATP 2, sequence conflict, sequence variant, splice variant,
UP_TISSUE Cervix, Mammary gland,
56848 sphingosine kinase 2(SPHK2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000063176,
GOTERM_BP_DIRECT blood vessel development, sphingosine-1-phosphate signaling pathway, sphinganine-1-phosphate biosynthetic process, sphingosine metabolic process, brain development, female pregnancy, cell proliferation, positive regulation of cell proliferation, sphingolipid biosynthetic process, negative regulation of apoptotic process, sphingosine biosynthetic process, lipid phosphorylation,
GOTERM_CC_DIRECT lysosomal membrane, cytosol, membrane,
GOTERM_MF_DIRECT protein binding, ATP binding, sphinganine kinase activity, kinase activity, Ras GTPase binding, D-erythro-sphingosine kinase activity, sphingosine-1-phosphate receptor activity,
INTERPRO Diacylglycerol kinase, catalytic domain, ATP-NAD kinase-like domain,
KEGG_PATHWAY Sphingolipid metabolism, Metabolic pathways, Calcium signaling pathway, Sphingolipid signaling pathway, VEGF signaling pathway, Fc gamma R-mediated phagocytosis, Tuberculosis,
PFAM Diacylglycerol kinase catalytic domain,
PUBMED_ID 10751414, 11230166, 11777919, 12391145, 12477932, 14596938, 14702039, 15489334, 15951439, 16103110, 16316995, 16344560, 16888242, 17311928, 17635916, 17895250, 17897319, 18178871, 18263879, 19168031, 19240026, 19490468, 19729656, 20197547, 20237496, 21307639, 21495716, 21620961, 21706498, 21707492, 21926972, 23106337, 23128233, 23314175, 23359503, 23881266, 23918304, 24140934, 24163370, 24385109, 24422628, 24486401, 24686171, 24709100, 24903384, 25010828, 25455157, 25808826, 26209696, 26337959, 26494858, 26886371,
SMART DAGKc,
UP_KEYWORDS Alternative splicing, ATP-binding, Complete proteome, Cytoplasm, Kinase, Lysosome, Membrane, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transferase,
UP_SEQ_FEATURE chain:Sphingosine kinase 2, domain:DAGKc, modified residue, sequence conflict, sequence variant, splice variant,
UP_TISSUE Brain, Carcinoma, Eye, Lymph, Whole embryo,
55576 stabilin 2(STAB2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000136011,
GAD_DISEASE Abdominal Fat, Calcium, Coronary Disease, F8 protein, human, Stroke, Tobacco Use Disorder,
GOTERM_BP_DIRECT angiogenesis, endocytosis, receptor-mediated endocytosis, cell adhesion, regulation of gene expression, regulation of blood coagulation, hyaluronan catabolic process, defense response to bacterium, oxidation-reduction process,
GOTERM_CC_DIRECT cytoplasm, plasma membrane, integral component of plasma membrane, external side of plasma membrane, endocytic vesicle membrane,
GOTERM_MF_DIRECT low-density lipoprotein receptor activity, scavenger receptor activity, calcium ion binding, protein binding, hyaluronic acid binding, protein disulfide oxidoreductase activity, low-density lipoprotein particle binding,
INTERPRO Link, Epidermal growth factor-like domain, FAS1 domain, EGF-like calcium-binding, EGF-like, laminin, EGF-like, conserved site, C-type lectin-like, C-type lectin fold, Green fluorescent protein-like, EGF domain, merozoite surface protein 1-like,
PFAM Extracellular link domain, Fasciclin domain, EGF domain,
PUBMED_ID 11829752, 12077138, 12473645, 12626425, 12751488, 14701874, 14702039, 15208308, 15572036, 17145755, 17962816, 18029348, 18230608, 18387958, 18434317, 18499864, 18519035, 18539600, 18573870, 19359419, 20379614, 20466649, 21029358, 21810271, 21878436, 22052472, 22566688, 23382691, 23416077, 23530033, 23870052, 24247245, 24709693, 24942734, 25446080,
SMART EGF_CA, EGF_Lam, EGF, LINK, FAS1,
UP_KEYWORDS Cell membrane, Complete proteome, Cytoplasm, Direct protein sequencing, Disulfide bond, EGF-like domain, Endocytosis, Glycoprotein, Hyaluronic acid, Laminin EGF-like domain, Membrane, Phosphoprotein, Polymorphism, Proteomics identification, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:190 kDa form stabilin-2, chain:Stabilin-2, disulfide bond, domain:EGF-like 1, domain:EGF-like 10, domain:EGF-like 11, domain:EGF-like 12, domain:EGF-like 13, domain:EGF-like 14, domain:EGF-like 15, domain:EGF-like 16, domain:EGF-like 17, domain:EGF-like 2, domain:EGF-like 3, domain:EGF-like 4, domain:EGF-like 5, domain:EGF-like 6, domain:EGF-like 7, domain:EGF-like 8, domain:EGF-like 9, domain:FAS1 1, domain:FAS1 2, domain:FAS1 3, domain:FAS1 4, domain:FAS1 5, domain:FAS1 6, domain:FAS1 7, domain:Laminin EGF-like 1, domain:Laminin EGF-like 2, domain:Link, glycosylation site:N-linked (GlcNAc...), modified residue, region of interest:Interaction with TMSB4X, sequence conflict, sequence variant, signal peptide, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Liver, Spleen, Testis,
27127 structural maintenance of chromosomes 1B(SMC1B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000077935,
GAD_DISEASE Azoospermia|Oligospermia, Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary, Hemoglobin A, Glycosylated,
GOTERM_BP_DIRECT sister chromatid cohesion, meiotic nuclear division,
GOTERM_CC_DIRECT chromosome, centromeric region, lateral element, nucleoplasm, cytoplasm, meiotic cohesin complex, nuclear meiotic cohesin complex,
GOTERM_MF_DIRECT DNA binding, ATP binding,
INTERPRO RecF/RecN/SMC, SMCs flexible hinge, Structural maintenance of chromosomes protein, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Cell cycle, Oocyte meiosis,
PFAM RecF/RecN/SMC N terminal domain, SMC proteins Flexible Hinge Domain,
PIR_SUPERFAMILY structural maintenance of chromosomes protein,
PUBMED_ID 10591208, 11329013, 11564881, 12477932, 12759374, 14660695, 15125634, 18029348, 20819778, 21242291, 21875947, 25216700, 26186194, 26344197,
SMART SM00968,
UP_KEYWORDS Alternative splicing, ATP-binding, Cell cycle, Centromere, Chromosome, Coiled coil, Complete proteome, Meiosis, Nucleotide-binding, Nucleus, Polymorphism, Reference proteome,
UP_SEQ_FEATURE chain:Structural maintenance of chromosomes protein 1B, compositionally biased region:Ala/Asp-rich (DA-box), modified residue, nucleotide phosphate-binding region:ATP, region of interest:Flexible hinge, sequence conflict, sequence variant, splice variant,
UP_TISSUE Epithelium, Testis,
25992 sushi, nidogen and EGF like domains 1(SNED1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000162804,
GOTERM_BP_DIRECT cell-matrix adhesion,
GOTERM_CC_DIRECT extracellular exosome,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO EGF-type aspartate/asparagine hydroxylation site, Sushi/SCR/CCP, Epidermal growth factor-like domain, EGF-like calcium-binding, Nidogen, extracellular domain, Fibronectin, type III, Insulin-like growth factor binding protein, N-terminal, EGF-like, conserved site, Immunoglobulin-like fold, EGF-like calcium-binding, conserved site,
PFAM EGF-like domain, Fibronectin type III domain, Nidogen-like, Human growth factor-like EGF,
PUBMED_ID 12477932, 15162516, 22675492, 23376485,
SMART CCP, FN3, EGF_CA, EGF, NIDO,
UP_KEYWORDS Alternative splicing, Calcium, Complete proteome, Disulfide bond, EGF-like domain, Glycoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal, Sushi,
UP_SEQ_FEATURE chain:Sushi, nidogen and EGF-like domain- containing protein 1, disulfide bond, domain:EGF-like 1, domain:EGF-like 10, domain:EGF-like 11; calcium-binding, domain:EGF-like 12; calcium-binding, domain:EGF-like 13, domain:EGF-like 14, domain:EGF-like 15, domain:EGF-like 2, domain:EGF-like 3, domain:EGF-like 4; calcium-binding, domain:EGF-like 5, domain:EGF-like 6, domain:EGF-like 7, domain:EGF-like 8, domain:EGF-like 9, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:Fibronectin type-III 3, domain:Follistatin-like 1, domain:Follistatin-like 2, domain:NIDO, domain:Sushi, glycosylation site:N-linked (GlcNAc...), modified residue, sequence conflict, sequence variant, signal peptide, splice variant,
UP_TISSUE Lung, Spleen,
9751 syntaphilin(SNPH) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000101298,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression,
GOTERM_BP_DIRECT neurotransmitter secretion, brain development, synaptic vesicle docking, neuron differentiation,
GOTERM_CC_DIRECT cytoplasm, cytoplasmic microtubule, integral component of membrane, cell junction, mitochondrial membrane, presynaptic membrane, neuron projection, neuronal cell body,
GOTERM_MF_DIRECT syntaxin-1 binding,
INTERPRO Syntaphilin,
PFAM Golgi-localised syntaxin-1-binding clamp,
PUBMED_ID 10707983, 11780052, 12477932, 12896979, 15459722, 17207965, 20877624, 23264731, 24483146, 9205841,
UP_KEYWORDS Alternative splicing, Cell junction, Coiled coil, Complete proteome, Membrane, Phosphoprotein, Reference proteome, Synapse, Synaptosome, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Double-strand-break repair protein rad21- like protein 1, chain:Syntaphilin, compositionally biased region:Poly-Glu, compositionally biased region:Poly-Ser, modified residue, sequence conflict, splice variant, transmembrane region,
UP_TISSUE Brain,
6813 syntaxin binding protein 2(STXBP2) Related Genes Homo sapiens
COG_ONTOLOGY Intracellular trafficking and secretion,
ENSEMBL_GENE_ID ENSG00000076944,
GOTERM_BP_DIRECT leukocyte mediated cytotoxicity, vesicle docking involved in exocytosis, protein transport, regulation of mast cell degranulation, neutrophil degranulation,
GOTERM_CC_DIRECT cytosol, plasma membrane, integral component of membrane, apical plasma membrane, SNARE complex, specific granule, azurophil granule, zymogen granule membrane, cytolytic granule, extracellular exosome, tertiary granule,
GOTERM_MF_DIRECT protein binding, syntaxin-1 binding, syntaxin-3 binding,
INTERPRO Sec1-like protein, Sec1-like, domain 2,
OMIM_DISEASE Hemophagocytic lymphohistiocytosis, familial, 5,
PFAM Sec1 family,
PIR_SUPERFAMILY vesicle trafficking protein, VPS45/Sec1 type,
PUBMED_ID 10788461, 11337467, 11487543, 11748230, 12065586, 12198139, 12477932, 12482918, 12649283, 12773094, 14702039, 16344560, 18588921, 19056867, 19460752, 19804848, 19884660, 20301617, 20558610, 20695848, 20798128, 20823128, 21152410, 21881043, 21990010, 22123903, 22336081, 22451424, 22672194, 22791290, 22796692, 22939629, 23100279, 23376485, 23382066, 23487749, 23533145, 23687090, 24194549, 24711643, 25036637, 25564401, 25947952, 26186194, 26320718, 26344197, 26496610, 26553929, 7598732, 7768895, 8125298, 8921365, 9045631, 9701566,
UP_KEYWORDS 3D-structure, Alternative splicing, Complete proteome, Disease mutation, Exocytosis, Membrane, Polymorphism, Protein transport, Proteomics identification, Reference proteome, Transmembrane, Transmembrane helix, Transport,
UP_SEQ_FEATURE chain:Syntaxin-binding protein 2, sequence variant,
UP_TISSUE Human small intestine, Lung,
54802 tRNA isopentenyltransferase 1(TRIT1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000043514,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Breast Cancer, Lung Cancer, Tobacco Use Disorder,
GOTERM_BP_DIRECT tRNA modification, tRNA processing, biosynthetic process, mitochondrial tRNA modification,
GOTERM_CC_DIRECT mitochondrion, mitochondrial matrix,
GOTERM_MF_DIRECT nucleic acid binding, dimethylallyltranstransferase activity, ATP binding, zinc ion binding, transferase activity, tRNA dimethylallyltransferase activity,
INTERPRO Isopentenyl transferase, Zinc finger, U1-type, tRNA delta(2)-isopentenylpyrophosphate transferase, Zinc finger, double-stranded RNA binding, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Metabolic pathways,
PFAM IPP transferase, Isopentenyl transferase, Zinc-finger double-stranded RNA-binding,
PUBMED_ID 11111046, 11560893, 12477932, 14702039, 15489334, 15870694, 16169070, 16344560, 16710414, 17081983, 17145094, 20095854, 20379614, 20877624, 23349019, 23455924, 24126054, 24901367, 25261850, 25814554, 8125298,
SMART ZnF_U1,
UP_KEYWORDS Alternative splicing, ATP-binding, Complete proteome, Cytoplasm, Metal-binding, Mitochondrion, Nucleotide-binding, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Transferase, Transit peptide, tRNA processing, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:tRNA isopentenyltransferase, mitochondrial, modified residue, region of interest:Interaction with isopentenylpyrophosphate transferase, region of interest:Interaction with substrate tRNA, region of interest:Substrate binding, sequence conflict, sequence variant, site:Interaction with substrate tRNA, splice variant, transit peptide:Mitochondrion, zinc finger region:Matrin-type,
UP_TISSUE Colon, Epithelium, Kidney, Lung, Synovial membrane, Uterus,
55039 tRNA methyltransferase 12 homolog(TRMT12) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000183665,
GOTERM_BP_DIRECT tRNA processing,
GOTERM_MF_DIRECT protein binding, transferase activity,
PFAM Met-10+ like-protein,
PUBMED_ID 12477932, 14702039, 15342556, 15489334, 16005430, 17150819, 17440925, 25416956, 8125298,
UP_KEYWORDS Complete proteome, Polymorphism, Proteomics identification, Reference proteome, S-adenosyl-L-methionine, Transferase, tRNA processing,
UP_SEQ_FEATURE chain:tRNA wybutosine-synthesizing protein 2 homolog, sequence conflict, sequence variant,
UP_TISSUE Colon, Ovary, Skin,
259294 taste 2 receptor member 19(TAS2R19) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000212124,
GOTERM_BP_DIRECT detection of chemical stimulus involved in sensory perception of bitter taste, G-protein coupled receptor signaling pathway, sensory perception of taste,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane,
GOTERM_MF_DIRECT G-protein coupled receptor activity, bitter taste receptor activity,
INTERPRO Mammalian taste receptor,
KEGG_PATHWAY Taste transduction,
PFAM Mammalian taste receptor protein (TAS2R),
PUBMED_ID 11696554, 12139982, 12379855, 12477932, 12581520, 15489334, 15496549, 15744053, 17081983, 20022913, 20675712,
UP_KEYWORDS Complete proteome, G-protein coupled receptor, Glycoprotein, Membrane, Polymorphism, Receptor, Reference proteome, Sensory transduction, Taste, Transducer, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Taste receptor type 2 member 48, glycosylation site:N-linked (GlcNAc...), modified residue, sequence variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Brain, Epithelium, Heart,
146279 tektin 5(TEKT5) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000153060,
GAD_DISEASE Alcoholism, Cholesterol, Cholesterol, LDL, Hemoglobin A, Glycosylated, Neutrophils, Tobacco Use Disorder,
GOTERM_CC_DIRECT nucleus, sperm flagellum,
GOTERM_MF_DIRECT protein binding,
INTERPRO Tektin,
PUBMED_ID 12477932, 14702039, 20379614, 21630459, 21822266, 23568457, 25416956,
UP_KEYWORDS Cell projection, Cilium, Coiled coil, Complete proteome, Polymorphism, Proteomics identification, Reference proteome,
UP_SEQ_FEATURE chain:Tektin-5, sequence variant,
UP_TISSUE Brain, Testis,
63923 tenascin N(TNN) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000120332,
GAD_DISEASE Alcoholism,
GOTERM_BP_DIRECT cell-matrix adhesion, axonogenesis, cell growth, cell migration,
GOTERM_CC_DIRECT proteinaceous extracellular matrix, cell surface,
GOTERM_MF_DIRECT integrin binding, identical protein binding,
INTERPRO Epidermal growth factor-like domain, Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain, Fibronectin, type III, EGF-like, conserved site, Immunoglobulin-like fold, Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2, Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1, Fibrinogen, conserved site,
KEGG_PATHWAY PI3K-Akt signaling pathway, Focal adhesion, ECM-receptor interaction, MicroRNAs in cancer,
PFAM Fibronectin type III domain, Fibrinogen beta and gamma chains, C-terminal globular domain,
PUBMED_ID 12477932, 12812753, 15592496, 16335952, 16710414, 17909022, 18306355, 22939629, 25868708, 26344197, 9817758,
SMART FN3, EGF, FBG,
UP_KEYWORDS Complete proteome, Disulfide bond, EGF-like domain, Extracellular matrix, Glycoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:Tenascin-N, disulfide bond, domain:EGF-like 1, domain:EGF-like 2, domain:EGF-like 3, domain:Fibrinogen C-terminal, domain:Fibronectin type-III 1, domain:Fibronectin type-III 2, domain:Fibronectin type-III 3, domain:Fibronectin type-III 4, domain:Fibronectin type-III 5, domain:Fibronectin type-III 6, domain:Fibronectin type-III 7, domain:Fibronectin type-III 8, domain:Fibronectin type-III 9, glycosylation site:N-linked (GlcNAc...), sequence variant, signal peptide,
UP_TISSUE Brain, Plasma,
80222 threonyl-tRNA synthetase 2, mitochondrial (putative)(TARS2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000143374,
GAD_DISEASE Acquired Immunodeficiency Syndrome|Disease Progression, Diabetes Mellitus, Type 2|,
GOTERM_BP_DIRECT threonyl-tRNA aminoacylation, mitochondrial threonyl-tRNA aminoacylation,
GOTERM_CC_DIRECT cytoplasm, mitochondrion, mitochondrial matrix,
GOTERM_MF_DIRECT RNA binding, threonine-tRNA ligase activity, ATP binding,
INTERPRO Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain, Threonine-tRNA ligase, class IIa, TGS, Anticodon-binding, Aminoacyl-tRNA synthetase, class II, Beta-grasp domain, TGS-like, Threonyl/alanyl tRNA synthetase, SAD, Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain,
KEGG_PATHWAY Aminoacyl-tRNA biosynthesis,
OMIM_DISEASE Combined oxidative phosphorylation deficiency 21,
PFAM tRNA synthetase class II core domain (G, H, P, S and T), TGS domain, Anticodon binding domain, Threonyl and Alanyl tRNA synthetase second additional domain,
PUBMED_ID 12477932, 14702039, 15146197, 15342556, 15489334, 15779907, 16710414, 19209188, 20186120, 20877624, 21145461, 24797263, 24827421, 25036637, 25921289, 26496610, 26811336, 27499296, 8125298, 8889548,
SMART SM00863,
UP_KEYWORDS Alternative splicing, Aminoacyl-tRNA synthetase, ATP-binding, Complete proteome, Disease mutation, Ligase, Mitochondrion, Nucleotide-binding, Phosphoprotein, Protein biosynthesis, Proteomics identification, Reference proteome, Transit peptide,
UP_SEQ_FEATURE chain:Threonyl-tRNA synthetase, mitochondrial, sequence conflict, transit peptide:Mitochondrion,
UP_TISSUE Brain, Liver, Lung, Lymph node,
51112 trafficking protein particle complex 12(TRAPPC12) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000171853,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT proteolysis, vesicle-mediated transport, metaphase plate congression, regulation of kinetochore assembly, negative regulation of mitotic spindle assembly checkpoint,
GOTERM_CC_DIRECT kinetochore, nucleus, endoplasmic reticulum-Golgi intermediate compartment,
GOTERM_MF_DIRECT endopeptidase activity, protein binding,
INTERPRO Tetratricopeptide-like helical, Tetratricopeptide repeat-containing domain, Tetratricopeptide repeat,
PFAM Tetratricopeptide repeat,
PUBMED_ID 10810093, 12477932, 14702039, 15489334, 16344560, 19460752, 20379614, 20562859, 21525244, 23251661, 25416956, 25918224, 25921289, 26186194, 26496610,
SMART TPR,
UP_KEYWORDS Complete proteome, ER-Golgi transport, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, TPR repeat, Transport,
UP_SEQ_FEATURE chain:Tetratricopeptide repeat protein 15, modified residue, repeat:TPR 1, repeat:TPR 2, repeat:TPR 3, repeat:TPR 4, sequence conflict, sequence variant,
UP_TISSUE Lung, Muscle, Uterus,
6947 transcobalamin 1(TCN1) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000134827,
GAD_DISEASE Alzheimer's Disease, atherosclerosis, atherosclerosis, coronary; homocysteine, Body Mass Index, Body Weight, cleft lip with cleft palate cleft lip without cleft palate, Down Syndrome, embryo selection, folate pathway vitamin levels, Homocysteine, homocysteine; vitamin B12; transcobalamin, hyperhomocysteinemia, Lipoproteins, LDL, Lymphoma, B-Cell|Lymphoma, Non-Hodgkin|Lymphoma, T-Cell, Lymphoma, Follicular|Lymphoma, Large B-Cell, Diffuse, Neural Tube Defects, pregnancy loss, prostate cancer, Type 2 Diabetes| edema | rosiglitazone, Vitamin B 12,
GOTERM_BP_DIRECT cobalt ion transport, cobalamin metabolic process, cobalamin transport,
GOTERM_CC_DIRECT extracellular region, extracellular space,
GOTERM_MF_DIRECT cobalamin binding,
INTERPRO Cobalamin (vitamin B12)-binding transporter, eukaryotic,
PFAM Eukaryotic cobalamin-binding protein, Domain of unknown function (DUF4430),
PUBMED_ID 11373332, 11717507, 1176444, 11788601, 12194912, 12477932, 12590948, 12923155, 1463480, 14656021, 14739547, 15073531, 15201366, 15342556, 15489334, 15834031, 15941899, 16268464, 16335952, 16341674, 16470748, 16502470, 16740002, 17487979, 17891500, 18485163, 18830263, 19303062, 19686235, 19729796, 19744961, 19913121, 19948975, 20082058, 20216556, 20360068, 20628086, 20852008, 21574054, 22306884, 22872637, 23670528, 23846701, 24057896, 24587374, 25147783, 2777761,
UP_KEYWORDS 3D-structure, Cobalt, Cobalt transport, Complete proteome, Disulfide bond, Glycoprotein, Ion transport, Polymorphism, Reference proteome, Secreted, Signal, Transport,
UP_SEQ_FEATURE chain:Transcobalamin-1, disulfide bond, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide,
UP_TISSUE Plasma, Saliva,
51224 transcription elongation factor B subunit 3B(TCEB3B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000206181,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, transcription from RNA polymerase II promoter, transcription elongation from RNA polymerase II promoter, regulation of DNA-templated transcription, elongation,
GOTERM_CC_DIRECT nucleus, integral component of membrane, elongin complex,
GOTERM_MF_DIRECT DNA binding, translation elongation factor activity, protein binding,
INTERPRO Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type, RNA polymerase II transcription factor SIII, subunit A, Transcription factor IIS, N-terminal,
PFAM RNA polymerase II transcription factor SIII (Elongin) subunit A, TFIIS helical bundle-like domain,
PUBMED_ID 10692460, 12477932, 15489334, 16189514, 16713569, 22094256, 24163370, 25416956, 7660129, 8244996,
SMART TFS2N,
UP_KEYWORDS Complete proteome, Elongation factor, Nucleus, Polymorphism, Protein biosynthesis, Reference proteome, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:RNA polymerase II transcription factor SIII subunit A2, domain:TFIIS N-terminal, region of interest:Activation domain, region of interest:Interacting with Elongin BC complex, sequence conflict, sequence variant,
UP_TISSUE PCR rescued clones, Testis,
116179 transglutaminase 7(TGM7) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000159495,
GOTERM_BP_DIRECT peptide cross-linking,
GOTERM_MF_DIRECT protein-glutamine gamma-glutamyltransferase activity, metal ion binding,
INTERPRO Transglutaminase, N-terminal, Transglutaminase-like, Transglutaminase, C-terminal, Immunoglobulin-like fold, Transglutaminase, conserved site, Immunoglobulin E-set, Protein-glutamine gamma-glutamyltransferase, eukaryota,
PFAM Transglutaminase family, Transglutaminase family, C-terminal ig like domain, Transglutaminase-like superfamily,
PIR_SUPERFAMILY protein-glutamine gamma-glutamyltransferase/erythrocyte membrane protein band 4.2,
PUBMED_ID 11390390, 23876241, 7688299, 7906657,
SMART TGc,
UP_KEYWORDS Acyltransferase, Calcium, Complete proteome, Metal-binding, Reference proteome, Transferase,
UP_SEQ_FEATURE chain:Protein-glutamine gamma- glutamyltransferase Z, metal ion-binding site:Calcium,
57761 tribbles pseudokinase 3(TRIB3) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000101255,
GAD_DISEASE Alzheimer's disease , diabetes, type 2, heart disease, ischemic; insulin, Insulin Resistance, metabolic syndrome, plasma HDL cholesterol (HDL-C) levels, Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT negative regulation of transcription from RNA polymerase II promoter, transcription, DNA-templated, protein phosphorylation, negative regulation of protein kinase activity, regulation of glucose transport, positive regulation of protein binding, positive regulation of proteasomal ubiquitin-dependent protein catabolic process, cellular response to insulin stimulus, response to endoplasmic reticulum stress, regulation of MAP kinase activity, negative regulation of fat cell differentiation, negative regulation of fatty acid biosynthetic process, negative regulation of transcription, DNA-templated, positive regulation of ubiquitin-protein transferase activity, intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress,
GOTERM_CC_DIRECT nucleus, nucleoplasm, nucleolus, cytosol, plasma membrane, nuclear membrane,
GOTERM_MF_DIRECT transcription corepressor activity, protein kinase activity, protein kinase inhibitor activity, protein binding, ATP binding, kinase activity, protein kinase binding, mitogen-activated protein kinase kinase binding, ubiquitin protein ligase binding, ubiquitin-protein transferase regulator activity,
INTERPRO Protein kinase, catalytic domain, Protein kinase-like domain, Pseudokinase tribbles family/serine-threonine-protein kinase 40, Pseudokinase tribbles, TRB3,
KEGG_PATHWAY Insulin resistance,
PFAM Protein kinase domain,
PUBMED_ID 11780052, 12477932, 12736262, 12743605, 12791994, 13679039, 14702039, 15299019, 15489334, 15775988, 15781252, 16123373, 16129579, 16147992, 16169070, 16715410, 16794074, 16887816, 16966378, 17112672, 17369260, 17576771, 17576816, 17707795, 17872950, 18029348, 18187772, 18276110, 18408768, 18436806, 18660489, 18984671, 19139803, 19180501, 19291425, 19389115, 19389818, 19505541, 19904274, 19913121, 20064487, 20139130, 20393693, 20410507, 20461355, 20592469, 20606298, 20628086, 20693163, 21130836, 21203563, 21220698, 21435438, 21492415, 21572435, 21704407, 21832049, 21864376, 21896644, 21935927, 22274752, 22577090, 22912727, 22934019, 22977230, 23185332, 23319603, 23349842, 23455924, 23550039, 23632994, 23695665, 24414038, 24685558, 25117710, 25168244, 25416956, 25447894, 25603829, 25845379, 26094770, 26186194, 26224857, 26253791, 26268733, 26517922, 26517925, 26517930, 26517932, 26517934, 26517935, 8125298,
SMART S_TKc,
UP_KEYWORDS Apoptosis, Complete proteome, Nucleus, Phosphoprotein, Polymorphism, Protein kinase inhibitor, Proteomics identification, Reference proteome, Stress response, Transcription, Transcription regulation,
UP_SEQ_FEATURE chain:Tribbles homolog 3, domain:Protein kinase, sequence conflict, sequence variant,
UP_TISSUE Cervix, Liver, Muscle,
84132 ubiquitin specific peptidase 42(USP42) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000106346,
GOTERM_BP_DIRECT ubiquitin-dependent protein catabolic process, spermatogenesis, protein deubiquitination, cell differentiation,
GOTERM_MF_DIRECT thiol-dependent ubiquitin-specific protease activity, protein binding, thiol-dependent ubiquitinyl hydrolase activity,
INTERPRO Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site,
PFAM Ubiquitin carboxyl-terminal hydrolase,
PUBMED_ID 12477932, 12690205, 12838346, 14702039, 14715245, 15302935, 15489334, 17081983, 18029348, 19615732, 20467438, 20618440, 22085928, 22779921, 24613305, 24673627, 25336640, 26496610, 26687479, 27030989, 8889548,
UP_KEYWORDS Alternative splicing, Complete proteome, Differentiation, Hydrolase, Phosphoprotein, Polymorphism, Protease, Proteomics identification, Reference proteome, Spermatogenesis, Thiol protease, Ubl conjugation pathway,
UP_SEQ_FEATURE chain:Ubiquitin carboxyl-terminal hydrolase 42, compositionally biased region:Arg-rich, compositionally biased region:Lys-rich, compositionally biased region:Pro-rich, modified residue, sequence conflict, sequence variant,
UP_TISSUE Epithelium, Placenta, Pooled,
219699 unc-5 netrin receptor B(UNC5B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000107731,
GAD_DISEASE ADHD | attention-deficit hyperactivity disorder, Alzheimer's disease , Attention Deficit Disorder with Hyperactivity, Tobacco Use Disorder,
GOTERM_BP_DIRECT angiogenesis, apoptotic process, signal transduction, positive regulation of phosphatidylinositol 3-kinase signaling, anterior/posterior axon guidance, negative regulation of neuron apoptotic process, negative regulation of extrinsic apoptotic signaling pathway in absence of ligand,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane, membrane raft,
GOTERM_MF_DIRECT protein binding,
INTERPRO Death domain, Thrombospondin, type 1 repeat, ZU5, Immunoglobulin subtype 2, Immunoglobulin subtype, Immunoglobulin-like domain, Death-like domain, Immunoglobulin I-set, Immunoglobulin-like fold,
KEGG_PATHWAY Axon guidance,
PFAM Thrombospondin type 1 domain, Death domain, ZU5 domain, Immunoglobulin I-set domain,
PUBMED_ID 12107411, 12359238, 12477932, 12598906, 12655055, 12975309, 14702039, 15342556, 15729359, 16344560, 16385451, 18469807, 18719102, 18839057, 19273616, 19570425, 19822088, 19826074, 20092749, 20379614, 20693423, 21172653, 21238923, 21922135, 22252496, 22951725, 23055195, 23312517, 23443559, 23526078, 23599441, 23666553, 24122613, 24528886, 24584118, 25921289, 26190107, 26235030, 26638075,
SMART DEATH, TSP1, ZU5, IGc2, IG,
UP_KEYWORDS Alternative splicing, Angiogenesis, Apoptosis, Cell membrane, Complete proteome, Developmental protein, Disulfide bond, Glycoprotein, Immunoglobulin domain, Lipoprotein, Membrane, Palmitate, Phosphoprotein, Polymorphism, Receptor, Reference proteome, Repeat, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Netrin receptor UNC5B, disulfide bond, domain:Death, domain:Ig-like, domain:Ig-like C2-type, domain:TSP type-1 1, domain:TSP type-1 2, domain:ZU5, glycosylation site:N-linked (GlcNAc...), mutagenesis site, region of interest:Interaction with DCC, sequence conflict, sequence variant, signal peptide, site:Cleavage; by caspase-3, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Amygdala, Lung, Teratocarcinoma, Testis,
728392 uncharacterized LOC728392(LOC728392) Related Genes Homo sapiens
OFFICIAL_GENE_SYMBOL LOC728392,
PUBMED_ID 12477932, 16344560, 17213182, 8619474, 8889548, 9110174,
UP_TISSUE Brain,
10090 uronyl 2-sulfotransferase(UST) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000111962,
GAD_DISEASE Antidepressive Agents, Blood Pressure, Body Height, Celiac Disease|, Coronary Artery Disease, Erythrocyte Count, Erythrocytes, Myocardial Infarction, Tobacco Use Disorder, Tunica Media,
GOTERM_BP_DIRECT protein sulfation, establishment of cell polarity, dermatan sulfate biosynthetic process, regulation of axonogenesis,
GOTERM_CC_DIRECT Golgi membrane, integral component of membrane,
GOTERM_MF_DIRECT sulfotransferase activity,
INTERPRO Sulfotransferase, Heparan sulphate 2-O-sulfotransferase, P-loop containing nucleoside triphosphate hydrolase,
KEGG_PATHWAY Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate,
PFAM Sulfotransferase family,
PUBMED_ID 10187838, 12477932, 14574404, 15489334, 16192264, 17227754, 19240061, 19322201, 20360315, 20379614, 20467438, 21145461, 23620144, 25456346,
UP_KEYWORDS Complete proteome, Glycoprotein, Golgi apparatus, Membrane, Polymorphism, Reference proteome, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Uronyl 2-sulfotransferase, glycosylation site:N-linked (GlcNAc...), sequence variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Brain cortex, Lymphoma,
80761 uroplakin 3B(UPK3B) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000276184,
GOTERM_BP_DIRECT negative regulation of gene expression,
GOTERM_CC_DIRECT plasma membrane, integral component of membrane, extracellular exosome,
INTERPRO Uroplakin-3,
PUBMED_ID 12446744, 12477932, 12853948, 14702039, 15489334, 16814572, 17207965, 18029348, 18776082, 21984916, 23376485, 26186194,
UP_KEYWORDS Alternative splicing, Cell membrane, Complete proteome, Glycoprotein, Membrane, Polymorphism, Proteomics identification, Reference proteome, Signal, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Uroplakin-3b, glycosylation site:N-linked (GlcNAc...), sequence variant, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Placenta, Subthalamic nucleus, Uterus,
7399 usherin(USH2A) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000042781,
GAD_DISEASE Apolipoproteins C, Blindness|Retinitis Pigmentosa, Body Height, Cholesterol, HDL, Erythrocyte Count, Glucose, hearing loss/deafness; retinal disease, Hemoglobins, Hip, Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome, Monocytes, Prostatic Neoplasms, recessive retinitis pigmentosa, Retinal Diseases, Retinitis Pigmentosa, retinitis pigmentosa; Usher syndrome, smoking cessation, Tobacco Use Disorder, Type 2 Diabetes| edema | rosiglitazone, Usher syndrome, Usher Syndromes,
GOTERM_BP_DIRECT visual perception, sensory perception of sound, hair cell differentiation, establishment of protein localization, photoreceptor cell maintenance, maintenance of organ identity, response to stimulus, sensory perception of light stimulus, inner ear receptor cell differentiation,
GOTERM_CC_DIRECT photoreceptor inner segment, stereocilia ankle link complex, basement membrane, cytoplasm, integral component of membrane, apical plasma membrane, photoreceptor connecting cilium, stereocilium bundle, ciliary basal body, stereocilium membrane, periciliary membrane compartment, USH2 complex,
GOTERM_MF_DIRECT protein binding, collagen binding, myosin binding, protein homodimerization activity,
INTERPRO Laminin G domain, EGF-like, laminin, Fibronectin, type III, LamG-like jellyroll fold, Laminin, N-terminal, Concanavalin A-like lectin/glucanase, subgroup, Immunoglobulin-like fold, Usherin,
OMIM_DISEASE Usher syndrome, type 2A, Retinitis pigmentosa 39,
PFAM Fibronectin type III domain, Laminin EGF-like (Domains III and V), Laminin N-terminal (Domain VI), Laminin G domain,
PUBMED_ID 10090909, 10729113, 10738000, 10775529, 10909849, 11311042, 11402400, 11788194, 12112664, 12160733, 12427073, 12433396, 12525556, 12786748, 14676276, 14970843, 15015129, 15025721, 15241801, 15325563, 15671307, 15823922, 16098008, 16114888, 16301216, 16301217, 16434480, 16545802, 16710414, 16767206, 17081983, 17085681, 17296898, 17360538, 17405132, 18273898, 18452394, 18463160, 18484607, 18519826, 18641288, 18665195, 19023448, 19129697, 19683999, 19737284, 19881469, 19913121, 20145675, 20301515, 20301590, 20309401, 20379614, 20440071, 20507924, 20591486, 20628086, 20801516, 21593743, 21686329, 22004887, 22009552, 22119785, 22147658, 22159486, 22563300, 22876132, 22990118, 23284306, 23382691, 23737954, 23924366, 23940504, 24227914, 24349473, 24607488, 24618850, 25078356, 25133613, 25234806, 25352746, 25375654, 25406310, 25521520, 25558175, 25649381, 25804404, 25823529, 26037342, 26252086, 26310143, 26377068, 276901, 9624053,
SMART FN3, LamNT, EGF_Lam, LamG, LamGL,
UP_KEYWORDS Alternative splicing, Cell membrane, Cell projection, Complete proteome, Deafness, Disease mutation, Disulfide bond, Glycoprotein, Hearing, Laminin EGF-like domain, Membrane, Polymorphism, Reference proteome, Repeat, Retinitis pigmentosa, Secreted, Sensory transduction, Signal, Transmembrane, Transmembrane helix, Usher syndrome, Vision,
UP_SEQ_FEATURE chain:Usherin, disulfide bond, domain:Fibronectin type-III 1, domain:Fibronectin type-III 10, domain:Fibronectin type-III 11, domain:Fibronectin type-III 12, domain:Fibronectin type-III 13, domain:Fibronectin type-III 14, domain:Fibronectin type-III 15, domain:Fibronectin type-III 16, domain:Fibronectin type-III 17, domain:Fibronectin type-III 18, domain:Fibronectin type-III 19, domain:Fibronectin type-III 2, domain:Fibronectin type-III 20, domain:Fibronectin type-III 21, domain:Fibronectin type-III 22, domain:Fibronectin type-III 23, domain:Fibronectin type-III 24, domain:Fibronectin type-III 25, domain:Fibronectin type-III 26, domain:Fibronectin type-III 27, domain:Fibronectin type-III 28, domain:Fibronectin type-III 29, domain:Fibronectin type-III 3, domain:Fibronectin type-III 30, domain:Fibronectin type-III 31, domain:Fibronectin type-III 32, domain:Fibronectin type-III 33, domain:Fibronectin type-III 34, domain:Fibronectin type-III 35, domain:Fibronectin type-III 4, domain:Fibronectin type-III 5, domain:Fibronectin type-III 6, domain:Fibronectin type-III 7, domain:Fibronectin type-III 8, domain:Fibronectin type-III 9, domain:Laminin EGF-like 1, domain:Laminin EGF-like 10, domain:Laminin EGF-like 2, domain:Laminin EGF-like 3, domain:Laminin EGF-like 4, domain:Laminin EGF-like 5, domain:Laminin EGF-like 6, domain:Laminin EGF-like 7, domain:Laminin EGF-like 8, domain:Laminin EGF-like 9, domain:Laminin G-like 1, domain:Laminin G-like 2, domain:Laminin N-terminal, glycosylation site:N-linked (GlcNAc...), modified residue, sequence conflict, sequence variant, short sequence motif:PDZ-binding, signal peptide, splice variant, topological domain:Cytoplasmic, topological domain:Extracellular, transmembrane region,
UP_TISSUE Epithelium,
221806 von Willebrand factor D and EGF domains(VWDE) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000146530,
GAD_DISEASE Hemoglobin A, Glycosylated, Prostatic Neoplasms, Tobacco Use Disorder, Waist-Hip Ratio,
GOTERM_CC_DIRECT extracellular region,
GOTERM_MF_DIRECT calcium ion binding,
INTERPRO Epidermal growth factor-like domain, von Willebrand factor, type D domain, EGF-like calcium-binding, Insulin-like growth factor binding protein, N-terminal, EGF-like, conserved site, EGF-like calcium-binding, conserved site,
PFAM von Willebrand factor type D domain,
PUBMED_ID 12477932, 14702039, 16303743, 20379614, 22268729, 23006423, 26186194,
SMART EGF_CA, EGF, VWD,
UP_KEYWORDS Alternative splicing, Complete proteome, Disulfide bond, EGF-like domain, Glycoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Secreted, Signal,
UP_SEQ_FEATURE chain:von Willebrand factor D and EGF domain- containing protein, disulfide bond, domain:EGF-like 1, domain:EGF-like 2, domain:EGF-like 3, domain:EGF-like 4, domain:EGF-like 5, domain:EGF-like 6, domain:EGF-like 7, domain:VWFD, glycosylation site:N-linked (GlcNAc...), sequence conflict, sequence variant, signal peptide,
UP_TISSUE Teratocarcinoma,
64132 xylosyltransferase 2(XYLT2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000015532,
GAD_DISEASE diabetes, type 1 , diabetes, type 1; blood pressure, arterial; nephropathy in other diseases, diabetic nephropathy, hypertension, null, Tunica Media,
GOTERM_BP_DIRECT glycosaminoglycan biosynthetic process, heparan sulfate proteoglycan biosynthetic process, chondroitin sulfate biosynthetic process, heparin biosynthetic process, chondroitin sulfate proteoglycan biosynthetic process,
GOTERM_CC_DIRECT Golgi membrane, endoplasmic reticulum membrane, membrane, integral component of membrane,
GOTERM_MF_DIRECT acetylglucosaminyltransferase activity, protein xylosyltransferase activity,
INTERPRO Glycosyl transferase, family 14, Xylosyltransferase,
KEGG_PATHWAY Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, Glycosaminoglycan biosynthesis - heparan sulfate / heparin, Metabolic pathways,
OMIM_DISEASE Pseudoxanthoma elasticum, modifier of severity of, Spondyloocular syndrome,
PFAM Core-2/I-Branching enzyme, Xylosyltransferase C terminal ,
PUBMED_ID 10383739, 11087729, 11099377, 11814476, 12477932, 12975309, 15489334, 16164625, 16569644, 17003309, 17194707, 18023272, 18763033, 18789912, 19014925, 19197251, 19289103, 19389916, 20301292, 22886070, 25704086, 25748573, 26027496, 26186194, 8889548, 9588955,
UP_KEYWORDS Alternative splicing, Complete proteome, Disease mutation, Disulfide bond, Endoplasmic reticulum, Glycoprotein, Glycosyltransferase, Golgi apparatus, Membrane, Polymorphism, Proteomics identification, Reference proteome, Signal-anchor, Transferase, Transmembrane, Transmembrane helix,
UP_SEQ_FEATURE chain:Xylosyltransferase 2, glycosylation site:N-linked (GlcNAc...), sequence variant, splice variant, topological domain:Cytoplasmic, topological domain:Lumenal, transmembrane region,
UP_TISSUE Chondrosarcoma, Pancreas,
65986 zinc finger and BTB domain containing 10(ZBTB10) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000205189,
GAD_DISEASE Hypothyroidism, Neutrophils,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT nucleoplasm,
GOTERM_MF_DIRECT nucleic acid binding, DNA binding, protein binding, metal ion binding,
INTERPRO BTB/POZ-like, Zinc finger, C2H2, BTB/POZ fold, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM BTB/POZ domain,
PUBMED_ID 12477932, 14702039, 15489334, 18029348, 20382698, 21145461, 22197932, 22493691, 22829776, 22895009, 22939629, 22990118, 23254909, 23471840, 23667531, 23817569, 24035498, 24239288, 24388013, 25416956, 25609649, 26186194, 26496610, 26549023, 27234298,
SMART BTB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Isopeptide bond, Metal-binding, Methylation, Nucleus, Phosphoprotein, Polymorphism, Reference proteome, Repeat, Transcription, Transcription regulation, Ubl conjugation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger and BTB domain-containing protein 10, compositionally biased region:Gly-rich, compositionally biased region:Pro-rich, domain:BTB, modified residue, sequence conflict, sequence variant, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 2,
UP_TISSUE Brain, PCR rescued clones, Prostate, Testis,
85446 zinc finger homeobox 2(ZFHX2) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000136367,
GAD_DISEASE Body Composition, Body Mass Index,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, adult behavior,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT zinc ion binding, sequence-specific DNA binding, metal ion binding,
INTERPRO Homeodomain, Zinc finger, U1-type, Zinc finger, C2H2, Homeodomain-like, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like, Homeobox, conserved site, Zinc finger homeobox protein 2,
PFAM Homeobox domain,
PUBMED_ID 10470851, 10737800, 11214970, 12477932, 18029348,
SMART ZnF_C2H2, HOX, ZnF_U1,
UP_KEYWORDS Activator, Alternative splicing, Coiled coil, Complete proteome, DNA-binding, Homeobox, Metal-binding, Nucleus, Reference proteome, Repeat, Repressor, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger homeobox protein 2, chain:Zinc finger protein 409, compositionally biased region:Glu-rich, compositionally biased region:Pro-rich, DNA-binding region:Homeobox 1, DNA-binding region:Homeobox 2, DNA-binding region:Homeobox 3, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6,
UP_TISSUE Brain,
56242 zinc finger protein 253(ZNF253) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000256771,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, negative regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT RNA polymerase II core promoter proximal region sequence-specific DNA binding, nucleic acid binding, zinc ion binding, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box, C2H2-type zinc finger,
PUBMED_ID 10585455, 12477932, 15670815, 16344560,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Metal-binding, Nucleus, Reference proteome, Repeat, Repressor, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 253, domain:KRAB, sequence conflict, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Bone marrow, Eye,
79744 zinc finger protein 419(ZNF419) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only, Transcription / Cell division and chromosome partitioning,
ENSEMBL_GENE_ID ENSG00000105136,
GAD_DISEASE Tobacco Use Disorder,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT intracellular, nucleus,
GOTERM_MF_DIRECT RNA polymerase II regulatory region sequence-specific DNA binding, nucleic acid binding, transcription factor activity, sequence-specific DNA binding, protein binding, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box, C2H2-type zinc finger,
PUBMED_ID 12477932, 14702039, 15342556, 15489334, 16344560, 18029348, 20379614, 21738768, 22658674, 25416956, 26186194,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Metal-binding, Nucleus, Polymorphism, Reference proteome, Repeat, Signal, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 419, domain:KRAB, sequence variant, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Brain, Coronary arterial endothelium, Skin, Uterus,
84627 zinc finger protein 469(ZNF469) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000225614,
GAD_DISEASE Blind Vision|Blindness|Corneal Diseases|Syndrome,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT DNA binding, metal ion binding,
INTERPRO Zinc finger, C2H2, Zinc finger, C2H2-like,
OMIM_DISEASE Brittle cornea syndrome 1,
PUBMED_ID 11347906, 17081983, 18452888, 19661234, 20485516, 20719862, 20938016, 21664999, 22486320, 22814818, 23010198, 23291589, 23680354, 24144296, 24895405, 25097247, 25564447, 26460568,
SMART ZnF_C2H2,
UP_KEYWORDS Complete proteome, DNA-binding, Metal-binding, Nucleus, Polymorphism, Proteomics identification, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 469, compositionally biased region:Arg-rich, compositionally biased region:Pro-rich, modified residue, sequence variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5; degenerate,
UP_TISSUE Brain, Epithelium,
199704 zinc finger protein 585A(ZNF585A) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000196967,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT intracellular, nucleus,
GOTERM_MF_DIRECT nucleic acid binding, transcription factor activity, sequence-specific DNA binding, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box,
PUBMED_ID 12477932, 14702039, 15489334, 16344560, 20562864,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, Metal-binding, Nucleus, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 585A, domain:KRAB, modified residue, sequence conflict, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11, zinc finger region:C2H2-type 12, zinc finger region:C2H2-type 13, zinc finger region:C2H2-type 14, zinc finger region:C2H2-type 15, zinc finger region:C2H2-type 16, zinc finger region:C2H2-type 17, zinc finger region:C2H2-type 18, zinc finger region:C2H2-type 19, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 20, zinc finger region:C2H2-type 21, zinc finger region:C2H2-type 22, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7; degenerate, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Epithelium, Uterus,
162966 zinc finger protein 600(ZNF600) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000189190,
GAD_DISEASE Phospholipids,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT nucleus,
GOTERM_MF_DIRECT DNA binding, transcription factor activity, sequence-specific DNA binding, metal ion binding,
INTERPRO Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, C2H2-type zinc finger,
PUBMED_ID 12576331, 14702039, 16344560, 20936779, 22359512,
SMART ZnF_C2H2,
UP_KEYWORDS Complete proteome, DNA-binding, Metal-binding, Nucleus, Polymorphism, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 600, modified residue, sequence conflict, sequence variant, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11; degenerate, zinc finger region:C2H2-type 12, zinc finger region:C2H2-type 13, zinc finger region:C2H2-type 14, zinc finger region:C2H2-type 15, zinc finger region:C2H2-type 16, zinc finger region:C2H2-type 17, zinc finger region:C2H2-type 18, zinc finger region:C2H2-type 19, zinc finger region:C2H2-type 1; degenerate, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 20, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Amygdala, Lymphocyte, Uterus,
284390 zinc finger protein 763(ZNF763) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000197054,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated, regulation of transcription from RNA polymerase II promoter,
GOTERM_CC_DIRECT intracellular, nucleus, extracellular exosome,
GOTERM_MF_DIRECT nucleic acid binding, DNA binding, transcription cofactor activity, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box, C2H2-type zinc finger,
PUBMED_ID 12477932, 14702039, 1505991, 1946370, 23284306, 23376485, 25416956,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Metal-binding, Nucleus, Polymorphism, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 763, domain:KRAB, sequence variant, zinc finger region:C2H2-type 1; degenerate, zinc finger region:C2H2-type 2; degenerate, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8,
UP_TISSUE Placenta,
284323 zinc finger protein 780A(ZNF780A) Related Genes Homo sapiens
COG_ONTOLOGY General function prediction only,
ENSEMBL_GENE_ID ENSG00000197782,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT intracellular, nucleus,
GOTERM_MF_DIRECT nucleic acid binding, DNA binding, transcription factor activity, sequence-specific DNA binding, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box, C2H2-type zinc finger,
PUBMED_ID 12477932, 14702039, 15057824, 16344560, 22658674, 8889548,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Alternative splicing, Complete proteome, DNA-binding, Metal-binding, Nucleus, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 780A, domain:KRAB, sequence conflict, splice variant, zinc finger region:C2H2-type 1, zinc finger region:C2H2-type 10, zinc finger region:C2H2-type 11, zinc finger region:C2H2-type 12, zinc finger region:C2H2-type 13, zinc finger region:C2H2-type 14, zinc finger region:C2H2-type 15, zinc finger region:C2H2-type 16, zinc finger region:C2H2-type 17, zinc finger region:C2H2-type 2, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Brain, Tongue,
284391 zinc finger protein 844(ZNF844) Related Genes Homo sapiens
ENSEMBL_GENE_ID ENSG00000223547,
GOTERM_BP_DIRECT transcription, DNA-templated, regulation of transcription, DNA-templated,
GOTERM_CC_DIRECT intracellular, nucleus,
GOTERM_MF_DIRECT nucleic acid binding, DNA binding, protein binding, metal ion binding,
INTERPRO Krueppel-associated box, Zinc finger, C2H2, Zinc finger C2H2-type/integrase DNA-binding domain, Zinc finger, C2H2-like,
PFAM Zinc finger, C2H2 type, KRAB box, C2H2-type zinc finger,
PUBMED_ID 12477932, 14702039, 25416956,
SMART KRAB, ZnF_C2H2,
UP_KEYWORDS Complete proteome, DNA-binding, Metal-binding, Nucleus, Polymorphism, Reference proteome, Repeat, Transcription, Transcription regulation, Zinc, Zinc-finger,
UP_SEQ_FEATURE chain:Zinc finger protein 844, domain:KRAB, sequence conflict, sequence variant, zinc finger region:C2H2-type 1; degenerate, zinc finger region:C2H2-type 2; degenerate, zinc finger region:C2H2-type 3, zinc finger region:C2H2-type 4, zinc finger region:C2H2-type 5, zinc finger region:C2H2-type 6, zinc finger region:C2H2-type 7, zinc finger region:C2H2-type 8, zinc finger region:C2H2-type 9,
UP_TISSUE Lymph node, Placenta, Trachea,
7791 zyxin(ZYX) Related Genes Homo sapiens
BIOCARTA Integrin Signaling Pathway,
ENSEMBL_GENE_ID ENSG00000159840,
GAD_DISEASE Type 2 Diabetes| edema | rosiglitazone,
GOTERM_BP_DIRECT cell adhesion, cell-matrix adhesion, signal transduction, transforming growth factor beta receptor signaling pathway, integrin-mediated signaling pathway, cell-cell signaling, viral process, stress fiber assembly, regulation of inflammatory response,
GOTERM_CC_DIRECT stress fiber, nucleus, cytoplasm, plasma membrane, integral component of plasma membrane, cell-cell adherens junction, focal adhesion,
GOTERM_MF_DIRECT protein binding, zinc ion binding, poly(A) RNA binding,
INTERPRO Zinc finger, LIM-type,
KEGG_PATHWAY Focal adhesion,
PFAM LIM domain,
PUBMED_ID 10224105, 10801818, 10831611, 10851246, 10882740, 10978534, 11423549, 11689660, 11782456, 11841540, 12417594, 12477932, 12659632, 12672821, 12690205, 12695497, 12853948, 15004028, 15084601, 15231748, 15302935, 15489334, 15748890, 16503656, 16510139, 16713569, 16956606, 16964243, 17081983, 17620599, 18029348, 18297730, 18682496, 18854154, 19173742, 19690217, 19738201, 19853601, 19913121, 20628086, 20705921, 20936779, 21248071, 21360639, 21423176, 21486952, 21516116, 21889443, 21900206, 22056563, 22286099, 22395610, 22658674, 22665060, 22721673, 22778267, 22863883, 22939629, 23233529, 23292068, 23321499, 23330981, 23840749, 24036928, 24654937, 25025691, 25038525, 25281560, 25416956, 25771989, 26071033, 26186194, 26344197, 26496610, 26611125, 26641092, 26673895, 27125030, 7644520, 7696985, 8622875, 8917469, 8940160, 9367993, 9730620, 9784834,
SMART LIM,
UP_KEYWORDS Acetylation, Alternative splicing, Cell adhesion, Cell junction, Complete proteome, Cytoplasm, Cytoskeleton, Direct protein sequencing, Host-virus interaction, LIM domain, Metal-binding, Methylation, Nucleus, Phosphoprotein, Polymorphism, Proteomics identification, Reference proteome, Repeat, Zinc,
UP_SEQ_FEATURE chain:Zyxin, compositionally biased region:Pro-rich, domain:LIM zinc-binding 1, domain:LIM zinc-binding 2, domain:LIM zinc-binding 3, modified residue, mutagenesis site, sequence variant,
UP_TISSUE Cervix carcinoma, Epididymis, Epithelium, Kidney, Placenta, Platelet, Skin, Umbilical vein, Uterus,